Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-ß Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy.

OBJECTIVE: To present a case of apparent mineralocorticoid excess (AME) due to a novel mutation in the HSD11B2 gene and describe the patient's response to therapy. METHODS: The clinical, biochemical, and genetic features of the proband and his family are presented. For the genetic study, DNA was extracted from peripheral leucocytes. The exons and exon-intron boundaries were polymerase chain reaction (PCR)-amplified and directly sequenced. RESULTS: A 10-year-old male presented with hypertension (HTN) and weakness and was found to have hypokalemia of 2.6 mmol/L. Plasma renin was undetectable, and plasma and urinary aldosterone were low. Serum cortisol and deoxycorticosterone were normal. Daily urinary excretion of cortisol was normal, but urinary and serum cortisone levels were undetectable. The patient was treated with spiranolactone with inadequate response. A small dose of dexamethasone was added and led to excellent control of HTN and hypokalemia. Genetic studies showed a novel missense biallelic mutation changing guanine to adenine in exon 3 (c.G526A) of the HSD11B2. This mutation changes the amino acid aspartic acid to asparagine at codon 176 (p.D176N). A monoallelic form of the same mutation was found in the parents and 3 of his 4 healthy siblings but not in a healthy sister or 100 normal subjects. CONCLUSIONS: A case of AME due to a novel mutation in HSD11B2 showed the usual features of AME but exhibited an inadequate response to spironolactone. A small dose of dexamethasone resulted in an excellent response.

Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.

BACKGROUND: Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia. METHODOLOGY:  We conducted a retrospective study by recruiting nine patients from six families, recruiting the proband whole exome sequencing results or any other genetic test results, screening other family members using Sanger sequencing and analysing the carrier status of the latter. These patients were recruited from the Endocrinology and Diabetes Clinic at Jazan General Hospital and East Jeddah Hospital, both in the Kingdom of Saudi Arabia. RESULT: Eight patients were diagnosed with GLD, and one was diagnosed with PLD. Of the six families, four were consanguineously married from the same tribe, while the remaining belonged to the same clan. The majority of GLD patients had an AGPAT2 c.158del mutation, but some had a BSCL2 c.942dup mutation. The single PLD case had a PPARG c.1024C > T mutation but no family history of the disease. In all families evaluated in this study, some family members were confirmed to be carriers of the mutation observed in the corresponding patient. CONCLUSION:  Familial screening of relatives of patients with rare, autosomal recessive diseases, such as lipodystrophy, especially when there is a family history, allows the implementation of measures to prevent the onset or reduced severity of disease and reduces the chances of the pathogenic allele being passed onto future generations. Creating a national registry of patients with genetic diseases and carriers of familial pathogenic alleles will allow the assessment of preventive measures and accelerate disease intervention via gene therapy.

Metabolic syndrome awareness and attitudes among family medicine residents in Riyadh 2019-2020.

CONTEXT: Metabolic syndrome (MS) is a group of metabolism diseases which includes over increase of the body weight, high insulin levels, elevated blood pressure, and abnormal level of cholesterol; these disorders may increase the risk of evolving coronary heart diseases. Primary health care physicians are responsible for caring for general patients and thus must have sufficient knowledge about MS, positive attitudes, and good medical practices. AIMS: To evaluate the knowledge, attitudes, and practices of family medicine residents in Riyadh regarding the diagnosis, management, and preventive measures of MS. METHODS AND MATERIAL: This study is a cross-sectional; it was conducted on family medicine residents in Riyadh using a survey to investigate the demographics, knowledge, attitudes, and practices of the residents regarding MS. RESULTS: This study included 224 physicians, of whom 35.3% had a high level of knowledge, 63.8% had positive attitudes, and 50% had good practices. No factors were associated with knowledge level; conversely, male gender and training at the KFMC were significantly associated with attitude (P = 0.009 and 0.004, respectively), and training level R1 and R2 were significantly related to the level of practice (P = 0.013 and 0.015, respectively). CONCLUSIONS: The family medicine residents reported a low knowledge level; however, more than half of them had positive attitudes and half had good practices.

Schistosomiasis Mansoni Manifesting as Multiple Colonic Polyps.

Schistosomiasis (bilharziasis) is a common parasitic disease in subtropical and tropical parts of Africa, some parts of the Middle East, South America, Asia, and some parts of the Caribbean. It is a major public health problem and associated with significant morbidity and mortality in endemic areas. We describe a 28-year-old male patient presenting with bleeding per rectum associated with mucus secretion, abdominal pain, anorexia, and weight loss. Blood investigation showed pancytopenia with macrocytic hypochromic anemia. Meanwhile, his colonoscopy showed two large polyps 10 cm and 50 cm away from the anal verge, each measuring 3 cm in size. Microscopic examination of multiple colonic biopsies confirmed Schistosoma mansoni. The patient was treated with praziquantel, which improved his condition. Colonic schistosomiasis is an important differential diagnosis in patients with a history of travel to endemic areas. Early diagnosis and medical management can avoid unnecessary invasive intervention in such cases.