Hip Dysplasia in a Patient in Late Adolescence With Charcot-Marie-Tooth and Multiple Acyl-CoA Dehydrogenase Deficiency.

This case report explores a unique presentation of hip dysplasia in a female patient aged 21 years old diagnosed with Charcot-Marie-Tooth disease (CMT) type 1A and multiple acyl-CoA dehydrogenase deficiency (MADD). The coexistence of these neuromuscular and metabolic disorders in a patient with hip dysplasia provides an opportunity to investigate their potential interactions and impact on diagnosis, treatment, and prognosis. The patient underwent labral repair with shelf osteotomy and later a total hip replacement. This case highlights the need for further research to better understand the relationships between CMT, MADD, neuromuscular dysplasia, and hip dysplasia. A deeper understanding of these interactions may lead to improved diagnostic techniques, earlier intervention, and personalized treatment approaches for patients with co-morbid conditions, ultimately improving patient outcomes and reducing complications later in life.

Thiamine deficiency in diabetes, obesity and bariatric surgery: Recipes for diabetic ketoacidosis.

Diabetic ketoacidosis (DKA) is a life-threatening condition affecting individuals with diabetes characterised by hyperglycaemia, metabolic acidosis and ketonemia. The incidence and financial burden of DKA is still high. Thiamine deficiency is well documented in patients with DKA and could be associated with cardiac dysfunction in those patients. Thiamine deficiency leads to cardiac dysfunction, neuronal death and worsens the prognosis of DKA. There is an existing metabolic relationship between thiamine deficiency in diabetes, obesity and bariatric surgery. Careful monitoring of thiamine, along with other vitamins, is essential for diabetic patients, obese individuals and postbariatric surgery. Further research and clinical studies are urgently needed to assess the following: (1) Whether diabetes, obesity and bariatric surgery make individuals more prone to have DKA related to thiamine deficiency and (2) Whether supplementation of thiamine can protect diabetic patients, obese subjects and individuals undergoing bariatric surgery from DKA. This review summarises the biochemistry of thiamine and the existing metabolic relationships between thiamine deficiency in DKA, diabetes, obesity and bariatric surgery. Primary and family physicians have an important role in ensuring adequate replacement of thiamine in individuals with diabetes, obesity and bariatric surgery.

Fracture Neck of the Femur: A Case of Two Pathologies.

We report a case of a 65-year-old woman who sustained a left neck of femur (NOF) fracture following low-energy trauma. Computed tomography (CT) scan for the neck, chest, abdomen and pelvis was normal apart from enlargement of the right lobe of the thyroid. Interestingly, thyroid function was normal. While waiting for the result of thyroid cytology and bone histology, the patient recovered well from the operation and started to engage well with physiotherapy. The result of the investigation showed presence of diffuse large B-cell lymphoma in the left NOF and right lobe of the thyroid. As the presence of lymphoma only in these two organs is extremely rare, it is not yet clear what is underlying mechanism for such association. Therefore, such observations may raise many future research questions as detailed in the discussion of this case report. This case also illustrates the importance of a multidisciplinary approach in identifying, evaluating, and treating unique and complex presentations of NOF fracture, with a focus on the patient's history, clinical examination and applying diagnostic tools.