Speech Therapy (Rehabilitation Therapy) in Foreign Accent Syndrome in a Turkish Patient: A Case Report

: One of the consequences of a stroke in human is a foreign accentual syndrome, which is often caused by trauma or stroke. One of the most important injuries in this syndrome is a disruption in prosodic units. The present report is about a 47-year-old woman with a brain tumor who speaks with a different accent than hers. Acoustic analyses were performed using the Praat software version 6.0.35. This paper indicates consistency with most of the damage reports in prosodic units, including stress, rhythm, pause, and speed of speech. Significant changes occurred in the prosodic units of the patient under study within 12 weeks. In addition to the decrease in the number of pauses and speech duration of the patient, pitch variations, increased coordination, and precision in articulation, also an increase in the expression of the number of words was observed during the patient’s speech. Due to the rarity of foreign accent syndrome, further research in this area is important for speech and language pathologists in terms of differential diagnosis and speech therapy.

HBV, HCV and HIV Seroprevalence in Syrian Refugee Patient Population Undergoing Preoperative Anaesthetic Assessment: A 10-Year Survey in a Tertiary Teaching Hospital

Objective: Migration can lead to a change in the demographic dynamics of host populations in terms of communicable diseases in destination countries. This is a potential public health challenge for health authorities. HBV and HCV infections can lead to the development of chronic liver diseases, cirrhosis and hepatocellular carcinoma, and HIV infection can lead to the development of serious opportunistic diseases. The aim of this study is to evaluate the seroprevalence of HBV, HCV and HIV in Syrian refugees and Turkish patients who were evaluated preoperatively in our hospital. Materials and methods: HBsAg, Anti-HBs, Anti-HBc, Anti-HCV and Anti-HIV results of Syrian refugee and Turkish patients who applied to surgical clinics between 2011-2021 were retrospectively reviewed. Results: The study is comprised of 54446 patients: Turkish patient group (n=20569) and Syrian refugee patient group (n=33877). The Syrian refugee patients had a significantly higher HBsAg seropositivity rate and a significantly lower anti-HBs seropositivity rate than the Turkish patients (p=0.002 and p<0.001, respectively). The anti-HCV and anti-HIV seropositivity rates were similar. The annual preoperative prevalance of HBsAg seropositivity in the Syrian refugee patients tended to significantly decrease gradually from year 2011 to year 2021 (p<0.001 for ≤30 and p=0.001 for >30 years old). Conclusion: As a result, although HBV seroprevalence gradually decreases and HCV and HIV seroprevalence is low; screening, information and treatment programs should be given due importance because of the serious disease potential and preventable conditions with precautions. In addition, preoperative screening of refugee patients coming for major surgery may be important for the safety of healthcare professionals.

Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia

Acute myeloid leukemia (AML) was first categorized in 1976 by French, American and British researchers, and divided into eight subgroups (M0 to M7), depending on the cytochemical or histological changes in the leukemic cells. The gene mutations of FLT3-ITD, CEBPA and NPM1 are the most common that cooperate together in the prognosis of AML. The CEBPA gene that is a hematopoietic transcription factor, is located on chromosome 19q13.11, and its prevalence is between 5.0 and 14.0% in AML. The patient was referred to our clinic suffering from menorrhagia, unplanned weight loss in a month and low platelet levels, and was diagnosed with AML on clinical and laboratory examination. Here, we report a patient carrying two novel pathogenic mutations that create a frameshift mutation on the CEBPA gene, c.940_941insCCGTCG TGGAGACGA CGAAGG and c.221_222delAC by Sanger sequencing methodology.

Tortuous vertebral artery triggering vertebral foramen expansion and radiculopathy in a 19-year-old patient: a case report

Background Arterial tortuosity is a widespread condition commonly occurring in cerebral arteries and often associated with the elderly. Moderate arterial tortuosity is often not symptomatic, but if there is severe tortuosity, various symptoms may occur, depending on the localization. In the literature, many factors have been reported as causing tortuosity in the vertebral arteries. In this case report, considering the age of our patient, we propose that, in addition to these previously reported reasons, congenital factors may also contribute to this situation. Case presentation We present a case of a 19-year-old Turkish patient with a tortuous vertebral artery causing pain and tingling in the right shoulder and neck. Magnetic resonance imaging revealed vertebral foramen enlargement thought to be secondary to a loop formation in the vertebral artery. The diagnosis was confirmed by magnetic resonance angiography. Conclusions There are many causes of cervical radiculopathy. Arterial tortuosity, a rare cause of radiculopathy, should be considered as a differential diagnosis. Consideration of the existence of this variation is of great importance in preventing possible dangerous complications during surgery.

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis

BackgroundProgressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.Case presentationHere we report a Turkish patient with compound heterozygous mutations in the ABCB4 gene, who has hepatosplenomegaly, low level of high-density lipoprotein, cholestasis and high level of cholestanol.ConclusionThis is the first PFIC3 case with a high cholestanol level described in the literature. There are very few diseases linked to increased cholestanol levels, two of which are CTX and PBC. From this case, we can conclude that a high cholestanol level might be another indicator of PFIC type 3.

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD) treatments were applied due to the failure to keep hyperammonemia and lactic acidosis under control. Ammonia values increasing to 860 μmol/L were observed. A homozygous novel variant was detected in PC gene analyses containing a 12-base pair deletion on exon 8. Although the mutation found was not reported previously, it was accepted as a pathogenic variant due to its presence in a functional region of the protein. In type B PC deficiency, although a high level of ammonia is expected, it rarely exceeds 200 μmol/L. As far as we know, the present case has the highest ammonia values in the literature. This paper has been shared to highlight to keep PC deficiency in mind regarding the differential diagnosis of hyperammonemia, particularly in the presence of lactic acidosis, and to serve as a model for the use of different modalities in the management process of PC deficiency.