Papers by Nasir al-Jurayyan
The journal of hand surgery, Apr 1, 1996
The hand surgeon is frequently involved in the medicolegal assessment of birth palsy cases. Altho... more The hand surgeon is frequently involved in the medicolegal assessment of birth palsy cases. Although brachial plexus injury has been reported in newborns delivered by Caesarean section, it is difficult to determine if these cases are due to excessive forc~ when delivering the infant from the uterus or whether the palsy is related to other factors. We have studied our series of 16 cases of obstetrical brachial plexus palsy with special attention to the newborn baby delivered by Caesarean section. We have reviewed the English literature over the last decade and found that birth palsy in newborns delivered by Caesarean section is extremely rare (1% of all birth palsy cases). The differentiation between brachial plexus injury caused by forcible delivery and congenital upper limb palsy from other causes is discussed.
Annals of Plastic Surgery, 1996
Two cases of obstetrical brachial plexus injury in subsequent deliveries in the same family are d... more Two cases of obstetrical brachial plexus injury in subsequent deliveries in the same family are described. Medicolegal aspects, review of the literature and recommendations regarding its prevention are given.
Annals of Saudi Medicine, May 1, 2011
A mbiguous genitalia are a complex and often confusing medical problem. In newborns it is a matte... more A mbiguous genitalia are a complex and often confusing medical problem. In newborns it is a matter of an emergency to decide the appropriate sex for rearing and eventually to prevent associated metabolic disturbances. Male and female embryos both have bipotential gonads that will develop into ovaries unless testes-organizing factors encoded by the Y-chromosome induce the gonads to differentiate into a testis. Somatic sexual differentiation will constitutionally develop according to a female phenotype in the absence of testicular activity. The diagnostic procedures require a number of laboratory and radiological investigations, based on a schematic and simple view of normal sexual differentiation. Sexual ambiguity may result in a male fetus either from insufficient secretion of androgens and their metabolites or insensitivity to its effects, or a female fetus with excessive secretion or
Annals of Saudi Medicine, Jul 1, 2013
Journal of Taibah University Medical Sciences, 2010
Objective Ambiguous genitalia constitute a major social and medical emergency. This study was con... more Objective Ambiguous genitalia constitute a major social and medical emergency. This study was conducted to assess the relevant clinical significance of this important clinical entity. Methods During the period 1989-2008, eighty-one patients with ambiguous genitalia were evaluated in a Pediatric Endocrine Clinic at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia. Results Of these 53 (65.4%) were genetically females (46XX), and 28 (34.6%) were having a male genetic sex (46XY). The majority of them were proven to have congenital adrenal hyperplasia. Twenty-five (47.2%) of the genetic females were wrongly assigned a male sex due to severe virilization while only two (7.1%) of the genetic males were wrongly assigned as females. Although early neonatal diagnosis facilitates appropriate management, sociocultural factors such as a bias concerning the male gender in the community and strong influence of the grandparents constitute major management obstacle. All genetic males who were wrongly assigned as females accepted re-assignment, and four (16%) of the 25 genetic females who were wrongly assigned as males refused re-assignment. Conclusion A team approach is mandatory for successful management. Guidelines for approaching the problems are also highlighted.
Background: Childhood hypopituitarism is a clinical syndrome of deficiency in pituitary hormone p... more Background: Childhood hypopituitarism is a clinical syndrome of deficiency in pituitary hormone production. It might be partial or complete. Presentation varies from asymptomatic to acute collapse depending on the etiology, rapidity of onset, and predominant hormone involved. Design and setting: A retrospective hospital based study was conducted at the pediatric endocrine service, King Khalid University Hospital (KKUH) Riyadh, Saudi Arabia during the period of January 1989 and December 2017. Material and methods: The medical records of patients with the diagnosis of hypopituitarism were retrospectively reviewed. Data included age, sex, clinical presentation, and results of relevant laboratory investigations and radiological imaging. Results: During the period under review, a total of 202 patients were diagnosed to have hypopituitarism. Mean age at diagnosis was 8.9 years, range 0-18 years. A brain MRI was helpful in identifying the cause. A diversity of causes was encountered with a non-tumor causes being the commonest. Conclusion: Childhood hypopituitarism is not that rare. A brain MRI scan is critical in attempting to determine the specific cause and plan the management.
Transient lodine Organification Defect in Infants With Ectopic Thyroid Glands
Clinical Nuclear Medicine, 1997
... Reprint requests: Nasir AM Al-Jurayyan, FRCPC, FAAP, Department of Pediatrics (39), College o... more ... Reprint requests: Nasir AM Al-Jurayyan, FRCPC, FAAP, Department of Pediatrics (39), College of Medicine and King Khalid University Hospital, King ... The perchlorate discharge test was performed 48 hours after the Tc-99m scan, using I-123 (King Faisal Specialist Hospital and ...
International journal of medical research profesionals, Dec 23, 2016
Steroids are medications that have been used extensively in a variety of medical conditions due t... more Steroids are medications that have been used extensively in a variety of medical conditions due to their antiinflammatory and immunosuppressive properties, Glucocorticoids have several side effects, with hyperglycemia being one of the most common. In this brief review, we discuss the steroid-induced hyperglycemia diagnoses, epidemiology, pathophysiology as well as the pharmacokinetics and pharmacodynamics associated with steroid use Strategy for the treatment was also highlighted.
American journal of medical genetics, 1995
We report on two sibs, born to consanguineous parents, with defects of the midline including clef... more We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome.
Biomedical Journal of Scientific and Technical Research, Jul 2, 2021
Journal of Taibah University Medical Sciences, 2011
Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance... more Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.
Background. Congenital adrenal hyperplasia is a group of autosomal recessive disorder resulting i... more Background. Congenital adrenal hyperplasia is a group of autosomal recessive disorder resulting in the deficiency of one of the enzyme required to synthesize cortisol. Design and setting: A retrospectivehospital based study, conducted at King Khalid University Hospital, Riyadh, during the period 1989-2014. Materials and Methods: Medical records of patients diagnosed with congenital adrenal hyperplasia were reviewed retrospectively. Results during the period under review (1989-2014), 95 Saudi patients were diagnosed with CAH; 76 (80%) patient (21--hydroxylase deficiency), 15 (15.8%) patients (11-hydroxylase deficiency), and 4 (4.2%) patients (3--HSD). Consanguinity was found in 56 (58.9%) patients. Thirty-one (55.4%) families had more than one affected child. Conclusion: High rate of consanguineous mating and multiple siblings involvement in the Saudi population were important factors contributing to the increased prevalence of the disorders.
Annals of Saudi Medicine, May 1, 2011
A mbiguous genitalia are a complex and often confusing medical problem. In newborns it is a matte... more A mbiguous genitalia are a complex and often confusing medical problem. In newborns it is a matter of an emergency to decide the appropriate sex for rearing and eventually to prevent associated metabolic disturbances. Male and female embryos both have bipotential gonads that will develop into ovaries unless testes-organizing factors encoded by the Y-chromosome induce the gonads to differentiate into a testis. Somatic sexual differentiation will constitutionally develop according to a female phenotype in the absence of testicular activity. The diagnostic procedures require a number of laboratory and radiological investigations, based on a schematic and simple view of normal sexual differentiation. Sexual ambiguity may result in a male fetus either from insufficient secretion of androgens and their metabolites or insensitivity to its effects, or a female fetus with excessive secretion or
Congenital Hypothyroidism: Clinical and Laboratory Characteristics in Infants Detected by Neonatal Screening
Annals of Saudi Medicine, Mar 1, 1992
A pilot cord serum thyroid-stimulating hormone (TSH) screening program for congenital hypothyroid... more A pilot cord serum thyroid-stimulating hormone (TSH) screening program for congenital hypothyroidism began in December 1988 at the Ministry of Health Maternity Hospitals in Riyadh. Out of 40,000 infants screened, 15 infants with congenital hypothyroidism have been detected. Of these, five had athyreosis, eight with ectopic thyroid glands, interestingly five of which had positive perchlorate discharge test suggestive of organification defects, and two had normally located glands with perchlorate discharge test suggestive of organification defects. The female to male ratio was 1.5:1. The clinical characteristics in our cases were not different from that previously reported. Although there was no significant difference in the mean cord T4 values among the different groups, the mean T4 values at recall in the aplastic group is significantly (P<0.001) lower than the cord results, (60.3 versus 15.3) and that is of recall for the ectopic group (15.3 versus 47.0). There was no significant difference in the mean TSH among the different groups in the cord and recall samples. The skeletal maturation was more delayed in the athyrotic group. The mean age at the time of recall was 17.8 days (range 6 to 64) and the mean age at the start of therapy was 20 days (range 8 to 64).
Childhood bacterial diarrhoea in a regional hospital in Saudi Arabia: clinico-aetiological features
PubMed, Apr 1, 1994
Over a one-year period, 210 paediatric patients, who were admitted with acute diarrhoea to a regi... more Over a one-year period, 210 paediatric patients, who were admitted with acute diarrhoea to a regional hospital in the south-western region of Saudi Arabia, were retrospectively reviewed for bacterial enteropathogens. Bacterial pathogens were isolated from 66 (31.4%) patients, with Shigella being the most common (17.1%), followed by Salmonella (10.5%), and enteropathogenic Escherichia coli (EPEC) (3.8%). Major clinical findings associated with bacterial diarrhoea are similar to those reported before. Our results suggest that bacterial pathogens constitute a major cause of acute childhood diarrhoea in hospitalized children in Al-Baha province. Further prospective community based studies are needed to identify the pattern and risk factors of acute childhood diarrhoea in the region.
Osteopetrosis in Children
International Journal of Clinical Practice
SUMMARYOver a 10‐year period, 28 Arab children with autosomal recessive osteopetrosis were seen i... more SUMMARYOver a 10‐year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset. Parental consanguinity was 56% and 40% among patients with and without acidosis respectively. Somatic and psychomotor retardation and recurrent bone fractures were common in both groups. Dental caries, cerebral calcification and optic atrophy were more frequent in patients with acidosis, while anaemia, hepatosplenomegaly and deafness were more common in patients without acidosis. To guarantee optimal rehabilitation, children with this progressive disease require an early multiteam approach.
Study on Primary Adrenal Insufficiency (PAI): Experience in a Major Teaching Hospital, Riyadh, Saudi Arabia
New Frontiers in Medicine and Medical Research Vol. 10, 2021
Background: Primary adrenal insufficiency (PAI) in children is an uncommon, but potentially fatal... more Background: Primary adrenal insufficiency (PAI) in children is an uncommon, but potentially fatal. The current symptoms include weakness, fatigue, anorexia, abdominal pain, weight loss, orthostatic hypotension, salt craving and characterized by hyperpigmentation. Aims: The objective of this study was therefore, to define the etiology of PAI in a large referral, teaching hospital in Riyadh, Saudi Arabia. Materials and Methods: This is a retrospective, hospital based-study, conducted at King Khalid University Hospital (KKUH), during the period January 1989 and December 2014. Review of medical record of patient diagnosed with pri- mary adrenal insufficiency. The diagnosis was based on medical history, physical examination and low levels of glucocor- ticoids and raised adrenocorticotropic hormone (ACTH). Appropriate laboratory and radiological investigations were also reviewed. Results: During the period under review, January 1989 and December 2014, a total of 125 patients with the diagnosis of primary adrenal insufficiency were seen. Inherited disorders like congenital adrenal hyperplasia and hypoplasia were com- mon, 85.5%. However, variable autoimmune mediated etiologic diagnosis accounted for, 13%, were also seen. The appro- priate various laboratory and radiological investigations should be planned. Conclusion: Although, congenital adrenal hyperplasia was the commonest etiology, however, congenital adrenal hypoplasia should not be over looked. The diagnosis of PAI can be challenging in some patients, and therefore appropriate serological.
Biomedical Research, 2018
Background: Adrenal haemorrhage (AH) in the newborn is not that uncommon and has been reported fr... more Background: Adrenal haemorrhage (AH) in the newborn is not that uncommon and has been reported frequently. AH occurs most often after a traumatic delivery or complicated neonatal course. Design and setting: A retrospective, hospital-based study conducted at king Khalid university hospital (KKUH), endocrine service, Riyadh, Saudi Arabia, during the period January 2014 and July 2018. Methods: Medical records of neonates who had been diagnosed to have AH were reviewed. Data included age, sex, clinical manifestations, laboratory and radiological investigations. Results: During the period under review, five neonates were diagnosed to have adrenal haemorrhage. All were term male infants, who were delivered vaginally .one baby was large for gestational age (LGA), and three babies had perinatal hypoxemia. Clinical symptoms were not specific and diagnosis was confirmed by performing abdominal sonography (USG). Conclusion: AH should be recognised in the new-borns with nonspecific symptoms who had potential risk factors. Abdominal ultrasonography (USG) should be performed to diagnose AH, and monitor its progress. Adrenal hormone testing also should be performed.
Biomedical Journal of Scientific & Technical Research, 2019
This article describes a 14-year-old-female who presented initially with short stature and phenot... more This article describes a 14-year-old-female who presented initially with short stature and phenotypic features of turner's syndrome, which was confirmed later by Karyotype to have mosaic 45XO/47XXX. She had delayed puberty and proved (hormonally) to have ovarian failure, with absent Mullerian structures (radiologically).
Sudanese journal of paediatrics, 2017
Growth Hormone (GH) deficiency is the most common pituitary hormone deficiency in children. Magne... more Growth Hormone (GH) deficiency is the most common pituitary hormone deficiency in children. Magnetic Resonance Imaging (MRI) of the brain detects structural pituitary anomalies associated with GH deficiency. This retrospective hospital-based study was conducted at King Khalid University hospital (KKUH), Riyadh, Saudi Arabia, during the period (January 1995-June 2016). The available radiological, clinical and laboratory records of all children with confirmed GH deficiency by dynamic testing who had MRI brain were reviewed. A total of 129 patients were diagnosed with GH deficiency and had MRI brain performed. Isolated GH deficiency (IGHD) was diagnosed in 118 (91.5%) and multiple pituitary hormone deficiency (MPHD) in 11 (8.5%) patients. Most children with IGHD had normal MRI findings ( = 86/118), while 14/118 had hypoplasia of the anterior pituitary and 11/118 had aplasia of the anterior pituitary. Most of the children with MPHD (6/11) showed anterior pituitary hypoplasia or (3/11) a...
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Papers by Nasir al-Jurayyan