Pak J Med Sci
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Autosomal recessive cerebellar ataxias (ARCA) are rare heterogenous neurodegenerative disorders characterized by degeneration of the cerebellum and spinal cord with an early onset before the age of 20 years. PMPCA (MIM: 613036), is a key enzyme in mitochondrial protein processing which is critical for cell survival and growth. Our objective was to investigate Peptidase, Mitochondrial Processing Subunit Alpha (PMPCA) mutations linked with Spinocerebellar ataxia, autosomal recessive 2 (SCAR2). ⋯ Identified phenotype in our case was similar as previously described for SCAR2 related conditions. To our knowledge, this is the first reported mutation in PMPCA gene leading to SCAR2 in Saudi Arabia. These findings will enrich the scarce literature, further provide a new insight on the role of PMPCA gene-related disorders leading to SCAR2 and expand the disease concept. In addition, this will help to establish a database for the disease and its causative factors will further help in controlling diseases resulting from consanguinity in Saudi population.
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To compare and find out the relationship between psychological distress, general health and life satisfaction among children with thalassemia and children undergoing dialysis. ⋯ Psychological distress is higher in children undergoing hemodialysis and general health is also not good but the level of satisfaction is almost equal between the two groups. This is justified that chronic illnesses do not preclude children from leading happy and satisfying lives.
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To explore the effect of multimodal analgesia based on the concept of enhanced recovery after surgery (ERAS) in patients undergoing laparoscopic radical gastrectomy (LRG) for gastric cancer (GC). ⋯ Patients undergoing LRG for GC can benefit from a multimodal pain management plan based on ERAS to reduce postoperative pain, alleviate inflammation, stress responses, and shorten the postoperative recovery process.
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To compare the pregnancy outcome of the fresh cycle or freeze-thaw cycle embryo transfer of patients treated with a long follicular phase regimen and antagonist regimen, and explore the clinical therapeutic effect of the two regimens. ⋯ The antagonist regimen has a low dosage and short medication time and can achieve a high embryo utilization rate and blastula formation rate, saving time and cost for patients.
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To evaluate the feasibility and safety of total laparoscopic hysterectomy (TLH) without uterine manipulator for patients with early-stage cervical cancer. ⋯ Compared with conventional laparoscopy, hysteroscopy without the use of uterine manipulators can significantly reduce the levels of SCC-Ag, CEA, and CA-125 in patients with early-stage cervical cancer within two years after the surgery, without increasing postoperative complications or affecting survival, and has the same safety.