Neonatal severe hyperparathyroidism (NSHPT) is a rare disease that can be lethal. Most patients require parathyroidectomy.
Report experience in managing this severe disease.
Retrospective chart ...review of case series.
Tertiary health care center.
We reviewed data on patients managed for NSHPT from June 2001 to January 2023. Demographic, clinical, and follow-up data were collected, and descriptive data were generated.
Pre- and postoperative levels of parathyroid hormone (PTH) and serum calcium, and effect of autotransplantation.
19.
The 13 males and 6 females had a a mean age of 46 days at referral. The mean preoperative parathyroid hormone (PTH) and serum calcium levels were 996 ng/L and 4.54 mmol/L, respectively. Twelve patients underwent ultrasonography preoperatively. Of these, six had prominent glands, while no glands were seen in the other six. A Sestamibi scan was done for 15 patients, of which nine showed negative results and six showed positive results, with three glands observed in the neck and three in the sublingual area. Nineteen patients underwent renal ultrasonography, with nine showing nephrocalcinosis. The mean age at surgery was 5.2 months. Total parathyroidectomy (four glands) was performed in 17 patients, and 15 underwent concurrent auto-transplantation. One patient had three glands removed, in addition to auto-transplantation. Another underwent single gland excision as a redo-surgery after previous surgery elsewhere. The mean postoperative follow-up duration was 6 years. The mean postoperative PTH and calcium levels were 25 ng/L and 1.64 mmol/L, respectively. Ultimately, all the patients were required to initiate calcium and vitamin D supplements, except for two patients who had undergone auto-transplantation. Molecular genetic screening of the calcium-sensing receptor gene reported likely pathogenic/pathogenic mutations in 16 of 19 patients (13 were homozygous, two were heterozygous, one was negative, and data was unavailable for the remaining three patients).
Surgical treatment of NSHPT is effective. Preoperative radiological localization studies did not impact the treatment plan. Auto-transplantation proved ineffective in maintaining independence from medical supplements.
The retrospective nature of the study may imply inaccuracybut since the data are gathered from electronic medical records, we believe it is highly accurate. The small sample size limits generalizability.
Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features ...alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort.
A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene.
GHR mutations were identified in 34 patients from 22 separate nuclear families. All 34 molecularly confirmed patients had the typical clinical and endocrinological manifestations of LS. Eleven different mutations (9 previously unreported) were detected in this cohort of patients, all inherited in an autosomal recessive homozygous form. No genotype/phenotype correlation was apparent.
The identification of pathogenic mutations causing LS will be of tremendous use for the molecular diagnosis of patients in Saudi Arabia and the region in general, with respect to prevention of this disease in the forms of future carrier testing, prenatal testing, premarital screening and preimplantation genetic diagnosis.
Introduction
Hereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR). ...This study aims to evaluate phenotype and genotype characteristics and long-term follow-up of the largest group of patients with (HVDDR-type II) in Saudi Arabia.
Methodology
We conducted a retrospective chart review to collect the clinical, biochemical, and genetic data for all HVDDR-type II patients currently receiving treatment at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Results
A total of 42 patients, 57.1% female, and 42.9% male were included in the study. Seven patients were treated with high doses of oral calcium, while 35 patients were treated with IV calcium infusion. The median age at presentation was 15.5 months. Alopecia was found in 97.6%, 21.4% presented with bowing legs, 14.3% with delayed walking, 9.5% with seizure, and 2.4% presented with respiratory failure, while a family history of the disease was positive in 71.4% of total patients. Molecular genetic testing of the VDR gene in our cohort identified six different gene variants c.885 C>A (p.Tyr295Ter), c.88 C>T (p.Arg30Ter), c.1036G>A (p.Val346Met), c.820C>T (p.Arg274Cys), c.803 T>C (p.Ile268Thr), and c.2T>G (p.Met1?).
Conclusion
We are describing the largest cohort of patients with HVDDR-type II, their clinical biochemical findings, and the most prevalent genetic variants in our population.
Munchausen syndrome by proxy: a case report Alkhattabi, Fadiah; Bamogaddam, Israa; Alsagheir, Afaf ...
Journal of medical case reports,
04/2023, Volume:
17, Issue:
1
Journal Article
Peer reviewed
Open access
Inappropriately high levels of insulin secretion can cause the potentially fatal condition of persistent hyperinsulinemic hypoglycemia of infancy. Our paper focuses on another cause of severe ...hypoglycemia, which can be easily missed.
An 18-month-old Saudi female was referred to our hospital for further investigation and management of her recurrent hypoglycemic attacks as a case of persistent hyperinsulinemic hypoglycemia of infancy. During admission, we noticed multiple red flags from the history; the mother was insisting on a pancreatectomy, rather than going for a positron emission tomography scan, and most importantly, all hypoglycemic attacks occurred while the mother was around. Consequently, after further investigation, the case was diagnosed as a caregiver-fabricated illness, and the case was referred to the Child Protection Center.
One must have a high index of suspicion to diagnose caregiver-fabricated illness. Physicians should be more attentive to prevent such a disease, which could eventually become lethal if left unnoticed.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholesterolemia (HoFH) in Saudi Arabia. This is a retrospective and prospective, ...single center study which included 37 patients 14 years and older enrolled and followed up between 2018-2021 for three years. 46% were females, 78% were offspring of consanguineous marriage. LDLR mutation was in 78% and LDL-C/LDLRAP in 3% of patients. Mean LDL-C at the first presentation was 14.2±3.7 mmol/L, average Dutch lipid score was 20.9±6.24. LDL apheresis was performed on 70% of patients. Most patients were on ezetimibe (92%), high-dose statins ( 84%) and PCSK9 inhibitors (32%). 48.6% had aortic stenosis, out of which 30% had severe aortic stenosis. Ten underwent aortic valve surgery (5 mechanical valve, 3 Ross procedure, 1 aortic valve repair, 1 bioprosthetic valve) and one had transcatheter aortic valve implantation (TAVI). Coronary artery bypass surgery (CABG) was performed on 32% and percutaneous intervention (PCI) on 11% of patients. HoFH patients have complex diseases with high morbidity and mortality, and benefit from a highly specialized multidisciplinary clinic to address their clinical needs. Although there are several therapeutic agents on the horizon, early diagnosis, and treatment of HoFH remain critical to optimize patient outcomes.
We present clinical practice guidelines for the diagnosis and treatment of homozygous familial hypercholesterolaemia (HoFH) in the Middle East region. While guidelines are broadly applicable in ...Europe, in the Middle East we experience a range of confounding factors that complicate disease management to a point whereby the European guidance cannot be applied without significant modification. Specifically, for disease prevalence, the Middle East region has an established epidemic of diabetes and metabolic syndrome that can complicate treatment and mask a clinical diagnosis of HoFH. We have also a high incidence of consanguineous marriages, which increase the risk of transmission of recessive and homozygous genetic disorders. This risk is further augmented in autosomal dominant disorders such as familial hypercholesterolaemia (FH), in which a range of defective genes can be transmitted, all of which contribute to the phenotypic expression of the disease. In terms of treatment, we do not have access to lipoprotein apheresis on the same scale as in Europe, and there remains a significant reliance on statins, ezetimibe and the older plasma exchange methods. Additionally, we do not have widespread access to anti-apolipoprotein B therapies and microsomal transfer protein inhibitors. In order to adapt existing global guidance documents on HoFH to the Middle East region, we convened a panel of experts from Oman, Saudi Arabia, UAE, Iran and Bahrain to draft a regional guidance document for HoFH. We also included selected experts from outside the region. This panel statement will form the foundation of a detailed appraisal of the current FH management in the Middle Eastern population and thereby provide a suitable set of guidelines tailored for the region.
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). We studied a young Saudi Arabian girl who exhibited the typical ...clinical features of HVDRR, but without alopecia. Analysis of her VDR gene revealed a homozygous T to C mutation in exon 7 that changed isoleucine to threonine at amino acid 268 (I268T). From crystallographic studies of the VDR ligand-binding domain, I268 directly interacts with 1,25-dihydroxyvitamin D3 1,25(OH)2D3 and is involved in the hydrophobic stabilization of helix H12. We recreated the I268T mutation and analyzed its effects on VDR function. In ligand binding assays, the I268T mutant VDR exhibited an approximately 5- to 10-fold lower affinity for 3H1,25(OH)2D3 compared with the wild-type (WT) VDR. The I268T mutant required approximately a 65-fold higher concentration of 1,25(OH)2D3 to be equipotent in gene transactivation. Both retinoid X receptor heterodimerization and coactivator binding were reduced in the I268T mutant. Analogs of 1,25(OH)2D3 have been proposed as potential therapeutics for patients with HVDRR. Interestingly, in protease sensitivity assays, treatment with the potent vitamin D analog, 20-epi-1,25(OH)2D3, stabilized I268T mutant proteolytic fragments better than 1,25(OH)2D3. Moreover, 20-epi-1,25(OH)2D3 restored transactivation of the I268T mutant to levels exhibited by WT VDR treated with 1,25(OH)2D3. In conclusion, we describe a novel mutation, I268T, in the VDR ligand-binding domain that alters ligand binding, retinoid X receptor heterodimerization, and coactivator binding. These combined defects in VDR function cause resistance to 1,25(OH)2D3 action and result in the syndrome of HVDRR.
Introduction
It is critical to categorize pressure ulcers at different stages to establish effective treatment plans. Debridement and excision of the underlying bursa and implicated bone tissue, ...followed by tissue covering, are the basic surgical procedures. This research examines patient characteristics, results, and complications, reporting on our experience treating pressure ulcers.
Methods
All the 25 individuals had a total of 39 pressure ulcers treated. The sacral ulcer was the most common. Three-quarters of the cases were related to pressure ulcer formation in hospitals. Debridement, primary repair, skin grafts, V-Y fasciocutaneous flap, transverse lumbar fasciocutaneous flap, V-Y tensor fascia lata flap, inferior gluteal rotational myocutaneous flap, and V-Y gluteal myocutaneous flap were among the available treatment options.
Results
Complications happened in 19%. Most of the time, pressure ulcers may be prevented with adequate understanding of their etiology and appropriate patient treatment for those who are at risk. Given the frequency of complications, recurrence, and new ulcers, treatment of individuals with pressure ulcers requires multidisciplinary involvement as well as family involvement. For the best prognosis and appropriate closure of the ulcer, complications and risk factors such as poor hygiene, anemia, diabetes, infection, and hypoalbuminemia should be avoided.
Conclusion
In the medical sector as a whole, pressure sores are a prevalent issue. The pelvic girdle pressure points appear to be the focus of most sores. Medical personnel who are in charge of patient monitoring must be knowledgeable about the main risk factors.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
•Homozygous familial hypercholesterolaemia (HoFH) is a very severe form of FH.•The Middle East/North Africa (MENA) region has unique challenges for the management of HoFH.•Guidelines are available ...for the MENA region but there has been little attention paid to disease prevention.•Modern clinical practice guidelines for patients in MENA require a holistic approach to the management of HoFH.
Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH. Therefore, in the interests of both economics and preservation of life, disease prevention via genetic screening and counselling is rapidly becoming a key element in the overall management of HoFH.
Guidelines are available to assist diagnosis and treatment of HoFH; however, while advancements have been made in the management of the disease, there has been little systematic attention paid to prevention. Additionally, the Middle East/North Africa (MENA) region has a higher prevalence of HoFH than most other regions — chiefly due to consanguinity. This has led to the establishment of regional lipid clinics and awareness programs that have thrown education and awareness of HoFH into sharp focus.
Incorporation of principles of prevention, education, awareness, and data from real-world use of existing therapeutics will significantly enhance the effectiveness of future guidelines for the management of HoFH, particularly in the MENA region.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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