Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot study.

The branched-chain amino acid (BCAA) is a group of essential amino acids that are involved in maintaining the energy balance of a human being as well as the homoeostasis of GABAergic, glutamatergic, serotonergic and dopaminergic systems. Disruption of these systems has been associated with the pathophysiology of autism while low levels of these amino acids have been discovered in patients with autism. A pilot open-label, prospective, follow-up study of the use of BCAA in children with autistic behaviour was carried out. Fifty-five children between the ages of 6 and 18 participated in the study from May 2015 to May 2018. We used a carbohydrate-free BCAA-powdered mixture containing 45·5 g of leucine, 30 g of isoleucine and 24·5 g of valine in a daily dose of 0·4 g/kg of body weight which was administered every morning. Following the initiation of BCAA administration, children were submitted to a monthly psychological examination. Beyond the 4-week mark, BCAA were given to thirty-two people (58·18 %). Six of them (10·9 %) discontinued after 4-10 weeks owing to lack of improvement. The remaining twenty-six children (47·27 %) who took BCAA for longer than 10 weeks displayed improved social behaviour and interactions, as well as improvements in their speech, cooperation, stereotypy and, principally, their hyperactivity. There were no adverse reactions reported during the course of the treatment. Although these data are preliminary, there is some evidence that BCAA could be used as adjunctive treatment to conventional therapeutic methods for the management of autism.

Restricted Ketogenic Diet Therapy for Primary Lung Cancer With Metastasis to the Brain: A Case Report.

A high-fat and low-carbohydrate diet was administered as a complementary and alternative therapy to a 54-year-old man suffering from non-small-cell lung cancer (NSCLC) with brain metastasis. Three months after the cessation of chemotherapy and radiotherapy, a ketogenic diet (KD) was initiated. This approach was an attempt to stabilize the disease progression after chemotherapy and radiotherapy. Computed tomography following radiation and chemotherapy showed a reduction in the right frontal lobe lesion from 5.5 cm × 6.2 cm to 4 cm × 2.7 cm, while the mass in the upper-right lung lobe reduced from 6.0 cm × 3.0 cm to 2.0 × 1.8 cm. Two years after KD initiation and without any other therapeutic intervention, the right frontal lobe lesion calcified and decreased in size to 1.9 cm × 1.0 cm, while the size of the lung mass further decreased to 1.7 cm × 1.0 cm. The size of the brain and lung lesion remained stable after nine years of KD therapy. However, dyslipidemia developed after this time which led to the discontinuation of the diet. No tumor relapse or health issues occurred for two years after the discontinuation of the diet. This case report indicates that the inclusion of ketogenic metabolic therapy following radiation and chemotherapy is associated with better clinical and survival outcomes for our patient with metastatic NSCLC.

The effect of VPA on bone: From clinical studies to cell cultures-The molecular mechanisms revisited.

PURPOSE: Valproic acid (VPA) is a broad-spectrum antiepileptic drug, which is widely used as a first line treatment for idiopathic and symptomatic generalized epilepsy, as well as in non-epileptic psychiatric disorders in adult and pediatric patients. Although valproic acid is considered to be a generally well-tolerated drug, numerous studies have shown an increased bone loss and fracture risk in patients treated with VPA. The purpose of this review is to outline recent findings on VPA molecular mechanisms and their action on bone metabolism. METHODS: Unrestricted electronic search of medical databases, complemented by additional manual searches, was performed by August 2016. RESULTS/CONCLUSION: The main effects of VPA on bone metabolism involve a decrease in osteoblast proliferation, changes in collagen synthesis as well as an induction of vitamin D catabolism. Apart from these direct actions of VPA in bone, indirect effects affecting other endocrine organs also contribute to VPA-induced bone loss.

Symptomatic epilepsy due to a huge frontal sinus mucocele. A case report.

We report the case of a 57-year-old man complaining of headaches and adult onset seizures. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed a process which proved to be a huge frontal sinus mucocele, eroding the posterior wall of the frontal sinus and compressing the left frontal lobe. An osteoplastic flap procedure with cranialization and obliteration of the frontal sinus was performed. The seizures and headache disappeared postoperatively. Clinical manifestations, diagnosis and surgical approaches for grand frontal sinus mucoceles are briefly discussed.

The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience.

BACKGROUND: The Inborn Errors of Metabolism (IEM) are far from the rare systemic diseases that mainly affect the neural tissue. There are very few written reports on ocular findings in subjects with IEM, thus it was interesting to study the frequency of ocular findings in the studied population and explore their contribution to the early diagnosis of IEM. METHODS: Our study involved the evaluation of IEM suspected cases, which had been identified in a rural population in Crete, Greece. Over a period of 3 years, 125 patients, who fulfilled the inclusion criteria of this study, were examined. Analytical physical examination, detailed laboratory investigation as well as a thorough ocular examination were made. RESULTS: A diagnosis of IEM was established in 23 of the 125 patients (18.4%). Ten (43.5%) of the diagnosed IEM had ocular findings, while 8 of them (34.8%) had findings which were specific for the diagnosed diseases. One patient diagnosed with glycogenosis type 1b presented a rare finding. Of the 102 non-diagnosed patients, 53 (51.96 %) presented various ophthalmic findings, some of which could be related to a metabolic disease and therefore may be very helpful in the future. CONCLUSIONS: The ocular investigation can be extremely useful for raising the suspicion and the establishment of an early diagnosis of IEM. It could also add new findings related to these diseases. The early management of the ocular symptoms can improve the quality of life to these patients.