Background The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1–5% of all patients with diabetes mellitus. MODY is characterized by autosomal dominant inheritance but de novo mutations have been reported. Clinical features of MODY include young-onset hyperglycemia, evidence of residual pancreatic function, and lack of beta cell autoimmunity or insulin resistance. Glucose-lowering medications are the main treatment options for MODY. The growing recognition of the clinical and public health significance of MODY by clinicians, researchers, and governments may lead to improved screening and diagnostic practices. Consequently, this review article aims to discuss the epidemiology, pathogenesis, diagnosis, and treatment of MODY based on relevant literature published from 1975 to 2020. Main body The estimated prevalence of MODY from European cohorts is 1 per 10,000 in adults and 1 per 23,000 in children. Since little is known about the prevalence of MODY in African, Asian, South American, and Middle Eastern populations, further research in non-European cohorts is needed to help elucidate MODY’s exact prevalence. Currently, 14 distinct subtypes of MODY can be diagnosed through clinical assessment and genetic analysis. Various genetic mutations and disease mechanisms contribute to the pathogenesis of MODY. Management of MODY is subtype-specific and includes diet, oral antidiabetic drugs, or insulin. Conclusions Incidence and prevalence estimates for MODY are derived from epidemiologic studies of young people with diabetes who live in Europe, Australia, and North America. Mechanisms involved in the pathogenesis of MODY include defective transcriptional regulation, abnormal metabolic enzymes, protein misfolding, dysfunctional ion channels, or impaired signal transduction. Clinicians should understand the epidemiology and pathogenesis of MODY because such knowledge is crucial for accurate diagnosis, individualized patient management, and screening of family members.

BackgroundPalpable breast lump, breast pain, and nipple discharge are common symptoms of breast disease. Breast cytology (fine-needle aspiration, nipple discharge smear, and touch preparation) accurately identifies benign, atypical, and malignant pathological changes in breast specimens. This study aims to determine the types of breast lesions diagnosed by breast cytology and assess the clinical adequacy of narrative reporting of breast cytology results.MethodsMedical records of 390 patients presenting to breast or general surgery clinics in Kenyatta National Hospital, Nairobi, Kenya, between January 2010 and March 2014 were evaluated retrospectively.ResultsOf the 390 diagnosed breast lesions, 89.7 % (n = 350) occurred in females, while 10.3 % (n = 40) occurred in males, giving rise to a female-to-male ratio of 8.8:1. Neoplastic breast lesions (n = 296) comprised 75.9 %, while non-neoplastic breast lesions (n = 94) comprised 24.1 % of all diagnosed breast lesions. The neoplastic lesions were classified as 72.3 % (n = 214) benign and 27.7 % (n = 82) malignant, resulting in a benign-to-malignant ratio of 2.6:1. Fibroadenoma (n = 136) and gynecomastia (n = 33) were the most frequently diagnosed breast lesions for women and men, respectively.ConclusionsBreast cytology effectively diagnosed neoplastic and non-neoplastic breast lesions. Neoplastic breast lesions occurred more frequently in women whereas non-neoplastic lesions occurred more frequently in men. To address the limitations associated with narrative reporting of breast cytology results, a synoptic reporting format incorporating the United Kingdom’s National Health Service Breast Screening Programme’s diagnostic categories (C1 to C5) is recommended for adoption by this hospital.

Background Diabetic neuropathy is the most common microvascular complication of diabetes mellitus and a major risk factor for diabetes-related lower-extremity complications. Diffuse neuropathy is the most frequently encountered pattern of neurological dysfunction and presents clinically as distal symmetrical sensorimotor polyneuropathy. Due to the increasing public health significance of diabetes mellitus and its complications, screening for diabetic peripheral neuropathy is essential. Consequently, a review of the principles that guide screening practices, especially in resource-limited clinical settings, is urgently needed. Main body Numerous evidence-based assessments are used to detect diabetic peripheral neuropathy. In accordance with current guideline recommendations from the American Diabetes Association, International Diabetes Federation, International Working Group on the Diabetic Foot, and National Institute for Health and Care Excellence, a screening algorithm for diabetic peripheral neuropathy based on multiphasic clinical assessment, stratification according to risk of developing diabetic foot syndrome, individualized treatment, and scheduled follow-up is suggested for use in resource-limited settings. Conclusions Screening for diabetic peripheral neuropathy in resource-limited settings requires a practical and comprehensive approach in order to promptly identify affected individuals. The principles of screening for diabetic peripheral neuropathy are: multiphasic approach, risk stratification, individualized treatment, and scheduled follow-up. Regular screening for diabetes-related foot disease using simple clinical assessments may improve patient outcomes.

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