Mcguirehauser9254

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ failure or even death, if untreated. A neonate with PA recovered from the first metabolic crisis 3 days after birth but developed a second metabolic crisis during the recovery phase. This patient was considered to have severe PA and was accordingly given carglumic acid treatment in combination with carnitine supplementation and protein restriction, which was expected to prevent a recurrent metabolic attack. The patient did not develop hyperammonemia after receiving carglumic acid and was never hospitalized. Moreover, she did not present with acidosis even during viral infection. At 26 months of age, she led a stable life while receiving carglumic acid and regular rehabilitation. NT157 nmr Carglumic acid treatment in combination with carnitine supplementation and protein restriction prevented metabolic decompensation, which would have otherwise required hospitalization, and resulted in improved quality of life and developmental outcomes. Copyright © 2020 Jun Kido et al.Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up. The seven major and minor criteria were regarded as sufficient for accurate diagnosis. Copyright © 2020 Claudia Ioana Borțea et al.In general, use of herbal remedies and preparations is on the ascendency in recent times among the general population and especially in young pregnant women, and this may be very dangerous due to adverse effects and interactions with drugs. A survey by the World Health Organization revealed that 70-80% of the world population resort to nonconventional medicines especially, herbal medicines in their primary healthcare. A lot of work has been done on the positive effects of herbs on the human body but very few publications on the potential side effects of consuming crude herbal preparations especially among pregnant women or the awareness of the medical team of this problem. Herbal remedies may come with many adverse effects and potentially serious interactions with some conventional medications. However, little is known about the dangers associated with consumption of herbal remedies by pregnant patients. Herbal medicines like their orthodox counterparts act through some mechanisms to bring about their curative effects in the body, and this usually goes out of order when these remedies interact with chemical drugs as a result of a combination of both by the victims. This is a case study to review the use of herbal medicine products among pregnant women, especially adolescent girls for abortive purposes, and also attempts to discuss some of the dangers associated with the use of herbal medicinal products together with conventional drugs during pregnancy. Copyright © 2020 P. P. S. Ossei et al.Pharyngeal liposarcomas are very rare; still more rare are dedifferentiated liposarcomas in the pharynx. An 82-year-old man presented with dysphagia, voice changes, weight loss, nasal regurgitation of liquids, and coughing spells. A 3.5 cm mass was identified in the hypopharynx. The mass was biopsied and diagnosed as a benign fibroepithelial polyp. Continued symptoms and airway obstruction prompted a pharyngectomy, and the mass was then diagnosed as dedifferentiated liposarcoma. Due to infrequency and subtle histological findings, liposarcomas of the head and neck can be misdiagnosed and recur. Copyright © 2020 Peter Wanes et al.We present a case of perilymphatic fistula (PLF) with inner ear anomalies having sudden, progressive sensorineural hearing loss and describe the fistula repair surgeries. We focus on the diagnosis methods of PLF and clinical course of PLF with inner ear anomaly. The cochlin-tomoprotein (CTP) detection test is very useful for the surgeons to encourage the earlier operation to sudden hearing loss cases. It is also helpful to define the diagnosis of PLF after operation. We could not get the good result as to hearing from the fistula repair surgery mainly because surgery was held 1 month after the onset. The results of the case, as well as recommendations of other reports, suggest that patients with sudden sensorineural hearing loss and PLF may need repair surgery within at most 2 weeks from the onset. We describe how to diagnose PLF more accurately using CTP detection combined with intraoperative findings. Copyright © 2020 Kana Lee et al.Ectopic cervical thymus is a rare congenital anomaly, which results because of the failure of complete descent of the thymus. They are incidental findings in the young and may disappear during the early years of life; however, they have rarely been described in adults. Some of them may undergo hyperplasia or neoplastic transformation and become visible or cause symptoms. We report two rare cases of incidentally detected cervical thymic tissue in adults. In one case, the thymic tissue was seen adjacent to a parathyroid adenoma of the left inferior parathyroid gland. In the other, it was seen adjacent to the left inferior parathyroid gland in a case of papillary thyroid carcinoma. In both these cases, the ectopic thymic tissue was diagnosed as a result of pathological examination, not clinically by macroscopic appearance during operation or radiological evaluation. The finding needs to be noted as these ectopic foci can occasionally give rise to hyperplasia and neoplasms of the thymus. Copyright © 2020 Vijay Shrawan Nijhawan et al.