calprotectin in faeces was observed throughout treatment. Globally, probiotic supplementation exe... more calprotectin in faeces was observed throughout treatment. Globally, probiotic supplementation exerted a strong influence on gut colonisation.
Al-Abdi et al. This is an open access article distributed under the terms of the Creative Commons... more Al-Abdi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Introduction: Iron deficiency anemia (IDA) is an internationally recognized leading cause of disa... more Introduction: Iron deficiency anemia (IDA) is an internationally recognized leading cause of disability and contributes to childhood morbidity and mortality. The prevalence of IDA is higher in developing countries, especially in Arab countries, compared to the west. Methods: To assess the prevalence of IDA, we analyzed the data of children aged between one to five years seen at Dr. Sulaiman Al-Habib Medical Group's tertiary care hospital in Dubai, United Arab Emirates (UAE) from 2016 to 2018. Results: We found a high occurrence of IDA in male children and non-Emirati children. Conclusion: Appropriate screening and iron supplementation are required to see a decline in the rate of IDA. Further nationwide studies are required to identify the highly prevalent and high-risk areas of IDA in the UAE.
Necrotizing pneumonia due to Methicillin-Resistant Staphylococcus Aureus (MRSA) is devastating an... more Necrotizing pneumonia due to Methicillin-Resistant Staphylococcus Aureus (MRSA) is devastating and difficult to treat in preterm infants. We report a case of severe MRSA necrotizing pneumonia in a preterm infant. As an add-on rescue therapy to vancomycin, linezolid rapidly cured this case after the failure of vancomycin plus rifampicin. This rapid cure suggests that adjunctive rather than rescue linezolid may be considered in such cases.
Premature infants are at a high risk of morbidity and mortality. Furthermore, physiologic immatur... more Premature infants are at a high risk of morbidity and mortality. Furthermore, physiologic immaturity renders most very low birth weight infants (VLBWIs) in need of interventions and stabilization immediately following birth. Some of these may trigger deleterious processes that become significant precursors to acute and chronic morbidities. The Kingdom of Saudi Arabia is lacking guidelines that focus on VLBWI, especially on the first hour of life (golden hour). Therefore, the aim of these practice guidelines is to compliment rather than replace clinical judgment. In addition, golden hour approach will enable units to collaborate in providing comprehensive care to VLBWI and thus will improve their chances of survival without pulmonary, neurodevelopmental, and neurosensory morbidities.
Papile et al’s grading system is as follows: Grade 1 - germinal matrix hemorrhage. Grade 2 - IVH ... more Papile et al’s grading system is as follows: Grade 1 - germinal matrix hemorrhage. Grade 2 - IVH without ventricular dilatation. Grade 3 - IVH with ventricular dilatation. Grade 4 - IVH extending into adjacent brain parenchyma. Volpe’s grading system is as follows: Grade 1 - germinal matrix hemorrhage with no IVH or IVH occupying 50% of the ventricular area on parasagittal view. Periventricular venous hemorrhagic infarction (PVHI) should be noted separately as this brain parenchymal hemorrhage is a consequence, not a continuum, of IVH. However, some researchers who have adopted Volpe’s grading system, including Volpe himself, used the term “grade 4” when referring to PVHI.
Objective To compare the new intraventricular hemorrhage (IVH) Abdi score to the Papile grading s... more Objective To compare the new intraventricular hemorrhage (IVH) Abdi score to the Papile grading system of IVH for prediction of composite outcome of death or neurodevelopmental impairment (NDI). Methods In a cohort study, all preterm infants with IVH who were born ≤1,250 g and/or ≤ 28 weeks of gestation at birth were prospectively followed up in our neonatal follow-up clinic. All cranial ultrasounds of the included infants were reviewed by neuroradiologists who were blinded to the clinical data and neurodevelopmental outcomes. Cranial ultrasounds were graded according to the Papile scoring system and by calculation of the Abdi score. Results A total of 183 preterm infants met inclusion and exclusion criteria. Of these, 80 (44%) had the composite primary outcome of death or NDI (51 died, 29 survived with NDI). The area under receiver operating characteristic curve for predicting death or NDI was 0.87 (95% confidence interval [CI]: 0.81-0.93) for Abdi score and 0.85 (95% CI: 0.79-0.91...
Pulmonary interstitial emphysema PIE is a recognized sequel of high pressure mechanical ventilati... more Pulmonary interstitial emphysema PIE is a recognized sequel of high pressure mechanical ventilation. Nevertheless, with the improvement in perinatal medical care, PIE started to be seen in spontaneously breathing infants. We present a 29-week-old girl who developed PIE on the first day of life, while she was on nasal continuous positive airway pressure, and was successfully managed with high frequency oscillatory ventilation. There is a paucity of these cases in the literature. We report on the occurrence of this entity, early reorganization, and the possible associated or causation factors.
We report the second case in English literature of limb ischemia related to umbilical venous cath... more We report the second case in English literature of limb ischemia related to umbilical venous catheter (UVC) use. This case was an extremely low birth weight preterm infant who otherwise remained stable during the first 8 days of life. On day 9, she developed intermittent ischemia of the distal phalanges of four fingers on the right hand. On day 11, the ischemia worsened during obtaining a blood for culture from the UVC. Blood cultures yielded cloxacillin-sensitive Staphylococcus aureus . On day 15, a large right atrial thrombus (RAT) was found after an echocardiogram (ECHO). Through consecutive ECHOs, we determined that the RAT was increasing in size. After administering a single dose of recombinant tissue plasminogen activator, size of the RAT decreased significantly, and no anticoagulants, it was deemed unnecessary. On day 147, the patient developed pulmonary hypertension (PH), which was attributed to severe bronchopulmonary dysplasia, and the patient died on day 168. After thorough analysis of the case, it is possible that PH might have been caused by a pulmonary embolism (PE). If a long-term anticoagulant was administered, or PE was considered and treated, the final patient outcome might have been different. In summary, a diagnosis of UVC-related ischemia requires a high index of suspicion. It may be of value to administer a long-term anticoagulant after successful treatment of RAT, and it would be prudent to consider a PE in a preterm infant who then develops PH.
R is the most common malignant intraocular tumor in children, fortunately, it is rare with an inc... more R is the most common malignant intraocular tumor in children, fortunately, it is rare with an incidence of one in 15,000 to one in 16,600 live-birth.1 Retinoblastoma is due to the mutation of retinoblastoma gene (RB-1), which is located in 13q14.1-q14.2.1 Approximately 75% of retinoblastoma is sporadic, in which RB-1 mutation develops in one cell of one retina, and the remaining 25% is congenital, in which RB-1 mutation develops in everybody’s cells (germline mutation).1 Thus, sporadic retinoblastoma is usually unilateral, and present during the second year of life, while congenital retinoblastoma is usually bilateral, and presents during the first year of life. A case of bilateral retinoblastoma diagnosed at retinopathy of prematurity (ROP) screening is presented in this article, emphasizing that retinoblastoma can be presented in the first weeks of life among preterm infants. On February 2010, a set of a dizygotic (diamniotic, dichorionic) spontaneous twin was born at the Neonatology Division, Department of Pediatrics, King Abdulaziz Hospital for National Guard, Al-Ahsa, Kingdom of Saudi Arabia at 28 weeks gestation via emergency cesarean section. First ROP screening was at 32 weeks postmenstrual age, corresponding to 4 weeks of life, revealed bilateral intraocular retinoblastoma in the first twin girl, and no retinopathy of prematurity. Her general condition was stable, and her brain MRI and CT showed no feature of retinoblastoma. Then, the patient was referred to another institution for chemotherapy. She completed her systemic chemotherapy treatment, and is currently under laser photo ablation sessions every 2 months. Blood sample of both twins and their parents were sent to Bioscientia Center for Human Genetics, Ingelheim, Germany for molecular genetic analysis. Sequence analysis of the RB1 gene detected in a heterozygous state, a deletion of a thymine at position c.635 in axon 7 of the RB-1 gene, which results in a frameshift and creates a premature stop codon (p.Leu212ArgfsX2). This mutation was not detected in blood samples of the second twin boy or the parents. There are more than 1,200 different point RB-1 mutations according to Leiden Open Variation Database (LOVD) which is the most comprehensive free web-based database reporting RB-1 mutations. The c.635delT(p.Leu212ArgfsX2) mutation has not been previously reported in the literature according to Bioscientia Center for Human Genetics and LOVD. Four cases of retinoblastoma detected during retinopathy of prematurity screening in the first few weeks of life have been reported during the last decade.2-5 Two of them occurred in dizygotic twins, and were bilateral. Similarly, our case was a dizygotic twin with bilateral retinoblastoma. This observation suggests that diagnosis of retinoblastoma during ROB screening is growing, albeit rare. Therefore, a high index of suspicion for diagnosis of retinoblastoma should be practiced during the ROP screening.
... 2008 Feb;123(1):109-10. Gene symbol: LMX1B. Disease: Nail-Patella syndrome. Al Balwi M, Stein... more ... 2008 Feb;123(1):109-10. Gene symbol: LMX1B. Disease: Nail-Patella syndrome. Al Balwi M, Steinberger D, Al Abdulkareem I, Al Abdi S. King Abduaziz Medical City, Molecular Pathology, PO. BOX 22490, MC1122, 11426 Riyadh, Saudi Arabia. [email protected]. ...
Post-circumcision meatal stenosis (PCMS) is well-recognized late complication of circumcision per... more Post-circumcision meatal stenosis (PCMS) is well-recognized late complication of circumcision performed during diaper age. [1] Accordingly, rubbing between circumcised site and the diaper is one of plausible causes of PCMS. Most of PCMS are corrected surgically (meatotomy) under general anesthesia. [2] Bazmamoun, et al., aimed to evaluate the hypothesis that lubricating the circumcision site would reduce the incidence of PCMS.
Journal of Genetic Syndromes & Gene Therapy, 2011
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with m... more Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with marked phonotypical variability among inter-and intra-familial cases. We describe here a full-term newborn baby girl with a characteristic phenotype of familial bilateral symmetrical hypoplastic nails of the upper limbs and small patellae were displaced by ultrasound. This patient has a homozygous mutation in the gene encoding LIM homeobox transcription factor 1 beta (LMX1B).
Rates of population growth, total fertility and birth among the Saudi population are increasing, ... more Rates of population growth, total fertility and birth among the Saudi population are increasing, resulting in more than half a million newborns delivered every year. Despite this significant number of deliveries, there is still an existing shortage in NICU (neonatal intensive care unit) beds in tertiary level hospitals. The percentage of pre-viable newborns in Saudi Arabia is similar to most countries worldwide. We agree that the definition of pre-viability is vague rather than distinct. Recently, a religious opinion regarding resuscitation of pre-viable newborns was issued from Saudi Arabia. It states that for infants born at less than 6 lunar months (25 2/7 weeks), two specialist physicians could assess the infant's clinical condition at birth and based on their opinion the infant could be offered full resuscitation if it is beneficial to the infant or he or she can be left without intervention to die but should not be deprived of nutrition or fluids. In this review, we compared the outcome of infants less than 1500 grams in three tertiary hospitals in Saudi Arabia with outcome of infants recently published by NICHD. We found that outcomes of these infants born in our tertiary level hospitals are comparable with the outcome of similar groups from NICHD. We strongly believe that clear guidelines are highly needed to support shared decision making to avoid inconsistency in managing ELBW infants at all Saudi hospitals.
International Journal of Pediatrics and Adolescent Medicine, 2020
Background: Making an informed choice between the available infant formulas is challenging, as th... more Background: Making an informed choice between the available infant formulas is challenging, as there is no unbiased tool allowing a systematic comparison between the very long lists of infant formula compositions. Aim: The aim is to present the Bray-Curtis Similarity Index (BCSI) as a tool for systematic comparison between standard stage-1 infant formula (SS-1-IF) compositions. Methods: We obtained the nutrient levels from the packaging labels of 23 SS-1-IFs available in Al-Ahsa, Saudi Arabia, in April 2018. The international legislations that launched infant formula standards endorse targeting the minimum rather than the maximum proposed nutrients levels. Thus, we blindly compared between displayed nutrients levels on each of the 23-studied SS-1-IF and the minimum international proposed nutrient levels via using the BCSI. Results: The range of the total displayed components was 38e57. Except for docosahexaenoic acid, all displayed components were within the standard recommended range. The BCSI summarized all displayed nutrients in a single number. The BCSI of the studied SS-1-IF ranged from 0.4141 to 0.79730. We ranked the 23 studied SS-1-IFs based on the higher BCSI is the closer to the minimum proposed nutrient levels. A dendrogram segregated the SS-1-IFs into four clusters based on their BSCI and total numbers of all displayed components. Conclusions: We think the BCSI is an appropriate tool for a systematic comparison between SS-1-IFs compositions and may help for choosing a SS-1-IF.
A case of a 20-year-old medical student with pseudoarthrosis of the right clavicle is presented. ... more A case of a 20-year-old medical student with pseudoarthrosis of the right clavicle is presented. Open reduction, bone grafting and plating were done. The pseudoarthrosis healed and the plate was removed after two years. This case is presented to highlight the treatment of this rare condition.
Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.
Reports on pediatric multisystem inflammatory syndrome (PMIS) temporally related to coronavirus d... more Reports on pediatric multisystem inflammatory syndrome (PMIS) temporally related to coronavirus disease 2019 (COVID-19) are increasing. African and Afro-Caribbean children constituted about 37% of the cases in these reports. Although glucose-6-phosphatase dehydrogenase (G6PD) deficiency is common among this population, the G6PD status of these cases has not been reported. We report the first case of PMIS related to COVID-19 from Saudi Arabia. This case was a Saudi G6PD deficient girl who died with PMIS related to COVID-19. G6PD deficiency induces redox imbalance and exaggerates the inflammatory response; thus, it might contribute to the development or the grave outcome of our case. We urgently need to assess the association between G6PD deficiency and COVID-19 in a large study as the G6PD deficiency may be a useful predictor for the progression of the COVID-19.
calprotectin in faeces was observed throughout treatment. Globally, probiotic supplementation exe... more calprotectin in faeces was observed throughout treatment. Globally, probiotic supplementation exerted a strong influence on gut colonisation.
Al-Abdi et al. This is an open access article distributed under the terms of the Creative Commons... more Al-Abdi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Introduction: Iron deficiency anemia (IDA) is an internationally recognized leading cause of disa... more Introduction: Iron deficiency anemia (IDA) is an internationally recognized leading cause of disability and contributes to childhood morbidity and mortality. The prevalence of IDA is higher in developing countries, especially in Arab countries, compared to the west. Methods: To assess the prevalence of IDA, we analyzed the data of children aged between one to five years seen at Dr. Sulaiman Al-Habib Medical Group's tertiary care hospital in Dubai, United Arab Emirates (UAE) from 2016 to 2018. Results: We found a high occurrence of IDA in male children and non-Emirati children. Conclusion: Appropriate screening and iron supplementation are required to see a decline in the rate of IDA. Further nationwide studies are required to identify the highly prevalent and high-risk areas of IDA in the UAE.
Necrotizing pneumonia due to Methicillin-Resistant Staphylococcus Aureus (MRSA) is devastating an... more Necrotizing pneumonia due to Methicillin-Resistant Staphylococcus Aureus (MRSA) is devastating and difficult to treat in preterm infants. We report a case of severe MRSA necrotizing pneumonia in a preterm infant. As an add-on rescue therapy to vancomycin, linezolid rapidly cured this case after the failure of vancomycin plus rifampicin. This rapid cure suggests that adjunctive rather than rescue linezolid may be considered in such cases.
Premature infants are at a high risk of morbidity and mortality. Furthermore, physiologic immatur... more Premature infants are at a high risk of morbidity and mortality. Furthermore, physiologic immaturity renders most very low birth weight infants (VLBWIs) in need of interventions and stabilization immediately following birth. Some of these may trigger deleterious processes that become significant precursors to acute and chronic morbidities. The Kingdom of Saudi Arabia is lacking guidelines that focus on VLBWI, especially on the first hour of life (golden hour). Therefore, the aim of these practice guidelines is to compliment rather than replace clinical judgment. In addition, golden hour approach will enable units to collaborate in providing comprehensive care to VLBWI and thus will improve their chances of survival without pulmonary, neurodevelopmental, and neurosensory morbidities.
Papile et al’s grading system is as follows: Grade 1 - germinal matrix hemorrhage. Grade 2 - IVH ... more Papile et al’s grading system is as follows: Grade 1 - germinal matrix hemorrhage. Grade 2 - IVH without ventricular dilatation. Grade 3 - IVH with ventricular dilatation. Grade 4 - IVH extending into adjacent brain parenchyma. Volpe’s grading system is as follows: Grade 1 - germinal matrix hemorrhage with no IVH or IVH occupying 50% of the ventricular area on parasagittal view. Periventricular venous hemorrhagic infarction (PVHI) should be noted separately as this brain parenchymal hemorrhage is a consequence, not a continuum, of IVH. However, some researchers who have adopted Volpe’s grading system, including Volpe himself, used the term “grade 4” when referring to PVHI.
Objective To compare the new intraventricular hemorrhage (IVH) Abdi score to the Papile grading s... more Objective To compare the new intraventricular hemorrhage (IVH) Abdi score to the Papile grading system of IVH for prediction of composite outcome of death or neurodevelopmental impairment (NDI). Methods In a cohort study, all preterm infants with IVH who were born ≤1,250 g and/or ≤ 28 weeks of gestation at birth were prospectively followed up in our neonatal follow-up clinic. All cranial ultrasounds of the included infants were reviewed by neuroradiologists who were blinded to the clinical data and neurodevelopmental outcomes. Cranial ultrasounds were graded according to the Papile scoring system and by calculation of the Abdi score. Results A total of 183 preterm infants met inclusion and exclusion criteria. Of these, 80 (44%) had the composite primary outcome of death or NDI (51 died, 29 survived with NDI). The area under receiver operating characteristic curve for predicting death or NDI was 0.87 (95% confidence interval [CI]: 0.81-0.93) for Abdi score and 0.85 (95% CI: 0.79-0.91...
Pulmonary interstitial emphysema PIE is a recognized sequel of high pressure mechanical ventilati... more Pulmonary interstitial emphysema PIE is a recognized sequel of high pressure mechanical ventilation. Nevertheless, with the improvement in perinatal medical care, PIE started to be seen in spontaneously breathing infants. We present a 29-week-old girl who developed PIE on the first day of life, while she was on nasal continuous positive airway pressure, and was successfully managed with high frequency oscillatory ventilation. There is a paucity of these cases in the literature. We report on the occurrence of this entity, early reorganization, and the possible associated or causation factors.
We report the second case in English literature of limb ischemia related to umbilical venous cath... more We report the second case in English literature of limb ischemia related to umbilical venous catheter (UVC) use. This case was an extremely low birth weight preterm infant who otherwise remained stable during the first 8 days of life. On day 9, she developed intermittent ischemia of the distal phalanges of four fingers on the right hand. On day 11, the ischemia worsened during obtaining a blood for culture from the UVC. Blood cultures yielded cloxacillin-sensitive Staphylococcus aureus . On day 15, a large right atrial thrombus (RAT) was found after an echocardiogram (ECHO). Through consecutive ECHOs, we determined that the RAT was increasing in size. After administering a single dose of recombinant tissue plasminogen activator, size of the RAT decreased significantly, and no anticoagulants, it was deemed unnecessary. On day 147, the patient developed pulmonary hypertension (PH), which was attributed to severe bronchopulmonary dysplasia, and the patient died on day 168. After thorough analysis of the case, it is possible that PH might have been caused by a pulmonary embolism (PE). If a long-term anticoagulant was administered, or PE was considered and treated, the final patient outcome might have been different. In summary, a diagnosis of UVC-related ischemia requires a high index of suspicion. It may be of value to administer a long-term anticoagulant after successful treatment of RAT, and it would be prudent to consider a PE in a preterm infant who then develops PH.
R is the most common malignant intraocular tumor in children, fortunately, it is rare with an inc... more R is the most common malignant intraocular tumor in children, fortunately, it is rare with an incidence of one in 15,000 to one in 16,600 live-birth.1 Retinoblastoma is due to the mutation of retinoblastoma gene (RB-1), which is located in 13q14.1-q14.2.1 Approximately 75% of retinoblastoma is sporadic, in which RB-1 mutation develops in one cell of one retina, and the remaining 25% is congenital, in which RB-1 mutation develops in everybody’s cells (germline mutation).1 Thus, sporadic retinoblastoma is usually unilateral, and present during the second year of life, while congenital retinoblastoma is usually bilateral, and presents during the first year of life. A case of bilateral retinoblastoma diagnosed at retinopathy of prematurity (ROP) screening is presented in this article, emphasizing that retinoblastoma can be presented in the first weeks of life among preterm infants. On February 2010, a set of a dizygotic (diamniotic, dichorionic) spontaneous twin was born at the Neonatology Division, Department of Pediatrics, King Abdulaziz Hospital for National Guard, Al-Ahsa, Kingdom of Saudi Arabia at 28 weeks gestation via emergency cesarean section. First ROP screening was at 32 weeks postmenstrual age, corresponding to 4 weeks of life, revealed bilateral intraocular retinoblastoma in the first twin girl, and no retinopathy of prematurity. Her general condition was stable, and her brain MRI and CT showed no feature of retinoblastoma. Then, the patient was referred to another institution for chemotherapy. She completed her systemic chemotherapy treatment, and is currently under laser photo ablation sessions every 2 months. Blood sample of both twins and their parents were sent to Bioscientia Center for Human Genetics, Ingelheim, Germany for molecular genetic analysis. Sequence analysis of the RB1 gene detected in a heterozygous state, a deletion of a thymine at position c.635 in axon 7 of the RB-1 gene, which results in a frameshift and creates a premature stop codon (p.Leu212ArgfsX2). This mutation was not detected in blood samples of the second twin boy or the parents. There are more than 1,200 different point RB-1 mutations according to Leiden Open Variation Database (LOVD) which is the most comprehensive free web-based database reporting RB-1 mutations. The c.635delT(p.Leu212ArgfsX2) mutation has not been previously reported in the literature according to Bioscientia Center for Human Genetics and LOVD. Four cases of retinoblastoma detected during retinopathy of prematurity screening in the first few weeks of life have been reported during the last decade.2-5 Two of them occurred in dizygotic twins, and were bilateral. Similarly, our case was a dizygotic twin with bilateral retinoblastoma. This observation suggests that diagnosis of retinoblastoma during ROB screening is growing, albeit rare. Therefore, a high index of suspicion for diagnosis of retinoblastoma should be practiced during the ROP screening.
... 2008 Feb;123(1):109-10. Gene symbol: LMX1B. Disease: Nail-Patella syndrome. Al Balwi M, Stein... more ... 2008 Feb;123(1):109-10. Gene symbol: LMX1B. Disease: Nail-Patella syndrome. Al Balwi M, Steinberger D, Al Abdulkareem I, Al Abdi S. King Abduaziz Medical City, Molecular Pathology, PO. BOX 22490, MC1122, 11426 Riyadh, Saudi Arabia. [email protected]. ...
Post-circumcision meatal stenosis (PCMS) is well-recognized late complication of circumcision per... more Post-circumcision meatal stenosis (PCMS) is well-recognized late complication of circumcision performed during diaper age. [1] Accordingly, rubbing between circumcised site and the diaper is one of plausible causes of PCMS. Most of PCMS are corrected surgically (meatotomy) under general anesthesia. [2] Bazmamoun, et al., aimed to evaluate the hypothesis that lubricating the circumcision site would reduce the incidence of PCMS.
Journal of Genetic Syndromes & Gene Therapy, 2011
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with m... more Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with marked phonotypical variability among inter-and intra-familial cases. We describe here a full-term newborn baby girl with a characteristic phenotype of familial bilateral symmetrical hypoplastic nails of the upper limbs and small patellae were displaced by ultrasound. This patient has a homozygous mutation in the gene encoding LIM homeobox transcription factor 1 beta (LMX1B).
Rates of population growth, total fertility and birth among the Saudi population are increasing, ... more Rates of population growth, total fertility and birth among the Saudi population are increasing, resulting in more than half a million newborns delivered every year. Despite this significant number of deliveries, there is still an existing shortage in NICU (neonatal intensive care unit) beds in tertiary level hospitals. The percentage of pre-viable newborns in Saudi Arabia is similar to most countries worldwide. We agree that the definition of pre-viability is vague rather than distinct. Recently, a religious opinion regarding resuscitation of pre-viable newborns was issued from Saudi Arabia. It states that for infants born at less than 6 lunar months (25 2/7 weeks), two specialist physicians could assess the infant's clinical condition at birth and based on their opinion the infant could be offered full resuscitation if it is beneficial to the infant or he or she can be left without intervention to die but should not be deprived of nutrition or fluids. In this review, we compared the outcome of infants less than 1500 grams in three tertiary hospitals in Saudi Arabia with outcome of infants recently published by NICHD. We found that outcomes of these infants born in our tertiary level hospitals are comparable with the outcome of similar groups from NICHD. We strongly believe that clear guidelines are highly needed to support shared decision making to avoid inconsistency in managing ELBW infants at all Saudi hospitals.
International Journal of Pediatrics and Adolescent Medicine, 2020
Background: Making an informed choice between the available infant formulas is challenging, as th... more Background: Making an informed choice between the available infant formulas is challenging, as there is no unbiased tool allowing a systematic comparison between the very long lists of infant formula compositions. Aim: The aim is to present the Bray-Curtis Similarity Index (BCSI) as a tool for systematic comparison between standard stage-1 infant formula (SS-1-IF) compositions. Methods: We obtained the nutrient levels from the packaging labels of 23 SS-1-IFs available in Al-Ahsa, Saudi Arabia, in April 2018. The international legislations that launched infant formula standards endorse targeting the minimum rather than the maximum proposed nutrients levels. Thus, we blindly compared between displayed nutrients levels on each of the 23-studied SS-1-IF and the minimum international proposed nutrient levels via using the BCSI. Results: The range of the total displayed components was 38e57. Except for docosahexaenoic acid, all displayed components were within the standard recommended range. The BCSI summarized all displayed nutrients in a single number. The BCSI of the studied SS-1-IF ranged from 0.4141 to 0.79730. We ranked the 23 studied SS-1-IFs based on the higher BCSI is the closer to the minimum proposed nutrient levels. A dendrogram segregated the SS-1-IFs into four clusters based on their BSCI and total numbers of all displayed components. Conclusions: We think the BCSI is an appropriate tool for a systematic comparison between SS-1-IFs compositions and may help for choosing a SS-1-IF.
A case of a 20-year-old medical student with pseudoarthrosis of the right clavicle is presented. ... more A case of a 20-year-old medical student with pseudoarthrosis of the right clavicle is presented. Open reduction, bone grafting and plating were done. The pseudoarthrosis healed and the plate was removed after two years. This case is presented to highlight the treatment of this rare condition.
Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.
Reports on pediatric multisystem inflammatory syndrome (PMIS) temporally related to coronavirus d... more Reports on pediatric multisystem inflammatory syndrome (PMIS) temporally related to coronavirus disease 2019 (COVID-19) are increasing. African and Afro-Caribbean children constituted about 37% of the cases in these reports. Although glucose-6-phosphatase dehydrogenase (G6PD) deficiency is common among this population, the G6PD status of these cases has not been reported. We report the first case of PMIS related to COVID-19 from Saudi Arabia. This case was a Saudi G6PD deficient girl who died with PMIS related to COVID-19. G6PD deficiency induces redox imbalance and exaggerates the inflammatory response; thus, it might contribute to the development or the grave outcome of our case. We urgently need to assess the association between G6PD deficiency and COVID-19 in a large study as the G6PD deficiency may be a useful predictor for the progression of the COVID-19.
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