Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.

Biotinidase deficiency (BD) is an autosomal recessive inherited metabolic disorder which results from the inability of biotin-dependent carboxylase enzymes to function due to the release and absorption of biotin, leading to neurological and cutaneous findings. In the present study, evaluation of demographic characteristics, clinical findings, laboratory results, molecular genetic characteristics, and genotype-phenotype correlations of cases with BD. Two hundred forty-seven cases were included in the study who were admitted to the Department of Pediatric Metabolism of Ankara Bilkent City Hospital after being identified with potential BD through the Newborn Screening Program (NBS), during family screening or based on suspicious clinical findings, or following the detection of a pathogenic variant in a BTD genetic analysis during the period of October 2020 and February 2022. The medical files of the cases were reviewed retrospectively. An analysis of the admission routes of all cases to our clinic revealed 89.5% NBS, 5.7% family screening, and 4.9% suspicious clinical findings suggestive of BD. Complete enzyme deficiency was identified in 19.8%, partial enzyme deficiency in 55.1%, and heterogenous enzyme deficiency in 9.7%. The most common pathogenic variants were c.1270G > C (p.Asp424His), c.410G > A (p.Arg137His), and c.38_44delGCGCTGinsTCC (p.Cys13Phefs*36) in BTD gene. The c.1270G > C variant was most common in patients with cutaneous symptoms. The c.410G > A and c.38_44delGCGCTGinsTCC variants were more common in the patients with neurological symptoms. The mean activity level in patients with the c.1270G > C homozygous variant was statistically significantly higher than the mean activity level in the c.1270G > C compound heterozygous patients and the activity level of patients without the c.1270G > C variant. The mean activity level in c.410G > A homozygous patients was statistically significantly lower than the mean activity level of the c.410G > A compound heterozygous patients and the activity level of patients without the c.410G > A variant. In the course of our study, four new pathogenic variants were detected, namely: c.190G > A (p.Glu64Lys), c.249 + 5G > T, c.228delA (p.Val77*), and c.682A > G (p.Ile228Val).     Conclusions: The present study has determined the clinical and genetic spectrum of a large group of patients with BD in a single center. The frequent mutations in our study were similar to those reported in literature, and four novel variants were also described. What is Known: • Biotinidase deficiency is an autosomal recessive, treatable inborn error of metabolism. Two hundred ninety-four pathogenic variants in the BTD gene have been identified and the c.1270G > C variant is the most frequent BTD gene mutation in both Turkey and around the world. What is New: • Four new pathogenic variants (c.190G > A, p.Glu64Lys; c.249 + 5G > T; c.228delA, p.Val77*; and c.682A > G, p.Ile228Val) have been identified. It is believed that the c.38_44delGCGGCTGinsTCC variant is more commonly seen in individuals with ocular issues; however, further genotype-phenotype correlations are needed.

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.

Introduction: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called "Schneckenbecken dysplasia" because of the resemblance of the pelvic shape to a snail. More recently, SLC35D1 variants have been associated with much milder phenotypes of skeletal dysplasia. Our report describes one such individual with a novel SLC35D1 variant. Case Presentation: A 17-year-old male with a coarse face and short stature was referred to our clinic. On his radiographic imaging, shortness of the long bones and metaphyseal flaring were detected. Using a clinical exome panel, we discovered a novel homozygous missense variant in the SLC35D1 gene, c.899G>T (p.Gly300Val). Conclusions: We identified a biallelic variant that was causative for a mild skeletal dysplasia and showed its phenotypic effects. Our observation confirms the existence of nonlethal skeletal dysplasias associated with biallelic SLC35D1 variants and suggests the existence of a phenotypic spectrum.

Difficult to think about but easy to treat: scurvy.

OBJECTIVES: Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features of scurvy lead to frequent misdiagnoses, as they can often point to other diseases, such as vasculitis, venous thrombosis and musculoskeletal disorders. As such, an extensive workup is recommended in cases in which scurvy is suspected. CASE PRESENTATION: A 21-month-old male patient and a 36-month-old female patient presented with difficulty in walking, painful joint movements, irritability, gingival hypertrophy and bleeding. After exhaustive investigations and risky invasive procedures, vitamin C deficiency was diagnosed in both cases, and the symptoms improved dramatically with vitamin C treatment. CONCLUSIONS: The importance of taking a dietary history in pediatric patients is highly recommended. In cases where scurvy is considered, serum ascorbic acid levels should be checked to confirm the diagnosis prior to conducting invasive tests.

Two cases of MEGDHEL syndrome diagnosed with hyperammonemia.

OBJECTIVES: MEGDHEL [3-methylglutaconic aciduria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like disease (L)] syndrome is an autosomal recessive disorder caused by mutations in the serine active site-containing protein 1 (SERAC1) gene. MEGDHEL syndrome is clinically characterized by sensorineural hearing loss, encephalopathy, hepatopathy, 3-methylglutaconic aciduria, and Leigh-like lesions on cranial magnetic resonance imaging. During the neonatal period, it has been reported to present with hypoglycemia, hyperammonemia, impaired liver functions, cholestasis, metabolic acidosis, and sepsis-like clinical findings. However, clinical findings in the neonatal period were reported as a result of the retrospective evaluation of patients diagnosed at an older age. Herein we reported two cases diagnosed as MEGDHEL syndrome during neonatal period in two different clinics with sepsis-like findings, impaired liver functions, and ammonia levels high enough to require dialysis. CASE PRESENTATION: One of the cases was born 37 weeks of gestation with a birth weight of 2,060 g and initially presented with respiratory distress and feeding difficulties. The other case admitted to the neonatal intensive care unit had fed problems together with respiratory distress and circulatory failure within the first 24 h after initiation of parenteral nutrition. CONCLUSIONS: MEGDHEL syndrome should be suspected in patients with sepsis-like clinical features and hyperammonemia.

Relationship between body awareness level and musculoskeletal pain complaints, physical activity level and emotional status in healthy people.

INTRODUCTiON/AIM: Defining the physical, psycho-social effects of body awareness may help to explain the functional effects. It was aimed to examine the relationship between the body awareness level and musculoskeletal pain complaints, physical activity level, and emotional state in healthy people. MATERIALS AND METHODS: A total of 289 healthy individuals between the ages of 18 and 25 were included in the study. Body awareness level was using Body Awareness Questionnaire (BAQ), musculoskeletal pain complaint using The Nordic Musculoskeletal Questionnaire (NMQ), physical activity levels using International Physical Activity Questionnaire (IPAQ-short form) and emotional status using Beck Depression Inventory (BDI) were assessed. RESULTS: The mean age of the participants was 19.50 ± 1.55 years. The mean pain intensity was 2.48 ± 1.99. The BAQ score average was 91.87 ± 15.55. Thirty percent of the participants had a mild level and 14.9% had a moderate level of depression risk. While there was a weak positive relationship between the Disease Startup sub-dimension of BAQ and the moderate-level IPAQ score (r = 0.135, p = 0.022). Also there was a weak negative relationship between Disease Startup sub-dimension and the level of depression risk. A weak positive relationship was found between the changes in the body process and attention to subjects sub-dimension and the level of depression risk (r = 0.127, p = 0.030). There was a positive correlation between level of depression risk and pain intensity (r = 0.237, p = 0.000). Body awareness levels of individuals who had back pain in the last 1 month were higher than those who did not experience pain (p = 0.029). CONCLUSION: The results of the study showed that physical activity positively affected body awareness level. The body awareness level was directly related to the pain associated with the musculoskeletal system and emotional state. There is a need more studies examining the relationship between body awareness and pain, physical activity and emotional status with subdimensions of the BAQ.

Relationships between anthropometric measurements, muscle strength and body awareness.

Most studies on body awareness offer data on assessment and treatment in disease situations. The aim of this study is to investigate the relationship between anthropometric measurements and body awareness level of healthy people. The study was carried out with 289 volunteer students between the ages of 18-25 who studied at university. Anthropometric measurements included height, weight, circumference measurements and measurement rates, skinfold thicknesses. In addition, grip strength and lower limb muscle strength was evaluated. The level of body awareness was evaluated by the Body Awareness Questionnaire. The mean age of the participants included in the study was 19.34 ± 1.48. Sixty five percent were female and 35% were male. A negative correlation was found between body weight and body awareness level (p = 0.02). According to the results of canonical correlation analysis, the model created with circumference measurement rates and sub-dimensions of the Body Awareness Questionnaire was found significant. There was significantly correlated between the changes in the body process and attention to responses, which are sub-dimension, and total right measurement of the lower limb (r:0.124; p: 0.035). In addition, there was a significant relationship between sleep-wakefulness cycle and waist-to-thigh ratios (r:- 0.172; p: 0.003). Our study showed that body awareness is directly related to body weight, lower limb circumference measurements, and waist-to-thigh ratio. These data revealed the effect of body awareness on anatomical structures.

Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.

OBJECTIVES: This study aimed to investigate the frequency and status of depression and anxiety among mothers of children with inborn errors of metabolism (IEM) who were on a restricted diet and previously experienced metabolic crises. METHODS: This cross-sectional multicenter descriptive study included 93 children with IEM who were on restricted diet. The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syrup urine disease, hereditary fructose intolerance) and those who had not experienced previous metabolic crises (n=49; phenylketonuria, galactosemia, and non-ketotic hyperglycinemia). The control group comprised 37 healthy children. The mothers of the patients and control participants answered a questionnaire about their and their children's demographic and clinical characteristics and completed the Beck Depression Inventory (BDI) and the State-Trait Anxiety Inventory (STAI-S and STAI-T). RESULTS: The maternal BDI, STAI-S, and STAI-T scores were 6.3±5.2, 36.1±11.2, and 39.9±8.8, respectively, in the control group. The maternal BDI, STAI-S, and STAI-T scores of the children who had experienced (19.2±9.7; 44.0±12.4; 47.9±10.6) and those who had not experienced (13.9±9.1; 40.7 ±8.6; 45.3±8.3) a crisis were significantly higher than for the controls. The BDI score was significantly higher for the mothers of children who had experienced a crisis (p=0.011), whereas no significant difference was determined between the two patient groups regarding STAI-S and STAI-T scores. The mothers of four children who had experienced metabolic crises were on antidepressant therapy. CONCLUSION: Although their children were on a similar restricted diet, the mothers of children who previously experienced or who had the risk of experiencing metabolic crises had higher depression scores as compared with the mothers of children who did not experience a previous crisis. Early supportive therapy may be required for the families of these patients to lower the burden of stress.

Evaluation of nutritional status in pediatric patients diagnosed with Covid-19 infection.

AIM: The aim of this study was to evaluate the nutritional status, the nutritional effect on the risk of infection and the severity of the disease, and the contribution of nutrition to the course of the infection in pediatric patients diagnosed with coronavirus disease who required additional nutritional support after hospitalization. METHODS: The body weight, height, body mass index, upper arm circumference, and triceps skinfold thickness of 49 patients aged 1 month to 18 years and diagnosed with Covid-19 and then hospitalized at the Ankara City Hospital, Pediatric Health and Diseases Hospital, Pediatric Infection ward between 15 May and 15 June 2020 were measured. Total protein, albumin, prealbumin, selenium, zinc, ferritin, folate, and selenium, C, D, E, and B12 levels were studied from blood drawn simultaneously from the patients. RESULTS: A total of 49 patients aged 8-18 years were evaluated. The median age was 13 years (age range 8-18). The females made up 53% and the males 47% of the group. No patient needed intensive care admission. Only 3 patients received antibiotic treatment and the others were followed up without treatment. The weight was normal in 75% and the height was normal in 90%. Mid-arm circumference and triceps thickness were normal in 72% of the patients. Vitamin D deficiency was present in 82%, vitamin B12 deficiency in 18%, vitamin C deficiency in 17%, ferritin deficiency in 16%, folate deficiency in 15%, vitamin A deficiency in 13%, and vitamin E deficiency in 7%. CONCLUSION: No patient required intensive care admission. Only 3 patients received antibiotic treatment and the others were followed up without treatment. Malnourishment was present in 3% of the patients while 9% were obese. Vitamin D deficiency was the most common vitamin deficiency while vitamin B12, vitamin C, Ferritin, vitamin A, vitamin E, and Folate deficiency were less common. Selenium and zinc levels were normal in all patients. There was no correlation between anthropometric values and susceptibility to childhood COVID-19 infection or the clinical course. It is possible that vitamin D deficiency increases susceptibility to the infection.

Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.

OBJECTIVES: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study aims to represent the clinical features and molecular genetic analysis data of the patients diagnosed with HFI in our study population. METHODS: The medical records of the 26 patients with HFI were evaluated retrospectively. Age, gender, clinical findings, metabolic crises, and the results of molecular analyses were recorded. RESULTS: The patients with HFI had a good prognosis and the aversion to sugar-containing foods was the main complaint. Seven different variants were identified in the Aldolase B (ALDOB) gene in HFI patients. The most frequent mutations were p.Ala150Pro, p.Ala175Asp had a prevalence of 61 and 30%, respectively, in agreement with the literature and other known variants were found with minor frequencies c.360-363del4(3.8%), p.Asn335Lys(3.8%), and three novel mutations c.113-1_15del4 (3.8%), p.Ala338Val(7.6%), and p.Asp156His(3.8%) were identified at a heterozygous, homozygous, or compound heterozygous level. CONCLUSIONS: This study results revealed three novel mutations in patients with HFI. On the basis of age of presentation, clinical symptoms, and metabolic crisis, there was no clear-cut genotype-phenotype correlation. This article also demonstrates the importance of screening suspected infants in cases of acute liver failure for prompt diagnosis and treatment of HFI.

The diagnostic role of testicular fatty acid-binding protein in testicular ischemia: A randomized controlled experimental study. / El papel de la proteína testicular acido graso en la isquemia testicular: estudio experimental randomizado.

OBJECTIVE: To investigate the diagnostic value of testicular fatty acid-binding protein (T-FABP) in acute testicular ischemia and prolonged ischemia. METHODS: The study included a total of 28 prepubertal male Wistar-Hannover rats. The animals were randomly divided into 4 groups as torsion groups (group I; min 30; 7 rats, group II; min 120; 7 rats, group III; min 240; 7 rats) and control group (group IV; 7 rats). In each group, the left testis was separated from the gubernaculum by blunt dissection together with the tunica vaginalis and spermatic cord, and then exposed. In the control group, the blood samples and left testicular tissues were collected at min 240 after extraction. In torsion groups, the left testis was rotated together with its cord elements,720° in a clockwise direction for the induction of an extravaginal TT model. The blood samples were obtained at min 30, 120, and 240 in the torsion groups. Bilateral testicular tissues were collected via orchiectomy for histopathological examination in all groups. RESULTS: The mean plasma T-FABP level in group III (torsion, min 240) was significantly higher than those of other groups. The T-FABP level at min 240 had a sensitivity and specificity of 100% and 85%, respectively, at a cut-off value of 1.059. A significant difference was found between the torsion groups and the control group with regard to histopathological scores. CONCLUSIONS: The increased T-FABP levels in testicular ischemia seem to be correlated with testicular necrosis rather than acute ischemia.

OBJETIVO: Investigar el valor diagnostico de la proteína testicular acido graso (PTAG) en la isquemia testicular aguda y prolongada. MÉTODOS: El estudio involucró 28 ratas Wastar-Hannover varones prepuberales. Los animales fueron randomizados y divididos en 4 grupos: grupo torsión (grupo I; min 30; 7 ratas, grupo II; min 120; 7 ratas, grupo III; min 240; 7 ratas), grupo control (grupo IV; 7 ratas). En cada grupo, el testículo izquierdo fue separado del gubernáculo con disección, junto con la túnica vaginalis y el cordón espermático, y después fueron expuestos. En el grupo control, la extracción de sangre y tejido testicular izquierdo fueron recolectados a los 240 minutosde la extracción. En el grupo de torsión, el testículo izquierdo se rotó junto con los elementos del cordón espermático, 720 grados en la dirección de las agujas del reloj para la inducción de un modelo TT extravaginal. Las muestras de sangre fueron obtenidas a los 30 minutos, 120 y 240 minutos en los grupos torsión. Tejido testicular bilateral fue recogido vía orquiectomia para examen anatomopatológico en todos los grupos. RESULTADOS: El nivel medio de PTAG en el grupo III (torsión 240 min) fue significativamente superior a los demás grupos. El nivel de PTAG a los 240 minutos tuvo una sensibilidad y especificidad del 100% y 85%, respectivamente a un valor de corte de 1.059. Se encontró una diferencia significativa entre los grupos de torsión y control en relación a los "scores" anatomopatológicos. CONCLUSIONES: Los niveles elevados de PTAG en la isquemia testicular parecen correlacionados con la necrosis testicular más que con la isquemia aguda.

Malonyl coenzyme A decarboxylase deficiency with a novel mutation.

Malonyl-CoA, a product of acetyl-CoA carboxylase is a metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it is involved in the de novo fatty acid synthesis and elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.1.1.9), a 55-kDa enzyme catalyses the conversion of malonyl-CoA to acetyl-CoA and carbon dioxide, thus providing a route for disposal of malonyl-CoA from mitochondria and peroxisomes, whereas in the cytosol, the malonyl-CoA pool is regulated by the balance of MLYCD and acetyl-CoA carboxylase activities. So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons, and frameshift mutations have been reported in the literature. Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analysis showed novel homozygous mutations in the MLYCD gene. Our findings expand the number of reported cases and add a novel variant to the repertoire of MLYCD mutations.

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey. In this cross-sectional, multicenter, descriptive study, medical records of 66 AKU patients were retrospectively evaluated. Patients' data regarding demographic, clinical and genetic characteristics were recorded. HGD database (http://hgddatabase.cvtisr.sk/) was used to identify HGD gene variants. Of the patients, 37 (56.1%) presented with isolated dark urine and 29 (43.9%) were diagnosed based on the clinical symptoms or family screening. One of these patients was on follow-up for 2 years due to Parkinsonism and was diagnosed with AKU on further analyses. Signs of ochronosis such as joint pain, low back pain and renal stones developed in childhood in 7 patients. Eight patients were diagnosed with depression via psychiatric evaluation. There were 14 (21.2%) patients operated on for ochronosis. The most frequent mutation observed in the patients was c.175delA, which was followed by c.674G > A and c.1007-2A > T mutations. Four novel mutations (c.189G > A, c.549+1G > T, c.1188+1G > A, and c.334 T > G) were identified in the patients included in the study. In addition to the known signs such as dark urine and skin pigmentation, symptoms involving different systems such as neurological findings and depression can also be encountered in AKU patients. The presence of a change in urine color needs to be questioned in patients presenting with different symptoms such as arthralgia/arthritis, renal stones or low-back pain, particularly in childhood, when skin ochronosis is not pronounced, and further examination should be performed.

Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.

BACKGROUND: The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein deficiency (MTPD), a rare condition that leads to failure of converting certain fats to energy is characterized by decreased activity of three enzymes in the enzyme complex. Signs and symptoms of MTPD may present during infancy or later in life; those that begin after infancy include hypotonia, muscle pain, rhabdomyolysis, and peripheral neuropathy. We report a Turkish boy diagnosed with MTPD after being investigated for polyneuropathy of unknown origin since infancy. CASE: A 5.5-year-old male patient was admitted to our clinic with complaints of weakness in the arms and legs, physical inactivity compared to his peers, fatigue, weakness and, difficulty in climbing stairs since infancy. Electroneuromyography (ENMG) analysis showed moderate symmetric distal sensorimotor and axonal neuropathy. On the background of chronic polyneuropathy, the patient had acute relapsing episodes with progressively worsening severity in the follow-up period until 12.5 years of age. Whole exome sequencing (WES) was performed in the patient and, revealed that the patient had a homozygous c.1390G > A (p.Gly464Ser) pathogenic variant of the HADHB gene. Although rhabdomyolysis is a well defined accompanying clinical feature of MTPD, it was not present in our patient who only had worsening muscle weakness during attacks. CONCLUSION: On the background of chronic polyneuropathy and acute relapsing episodes triggered by fasting or illnesses and rhabdomyolysis physicians should suspect disorders of the fatty acid beta-oxidation cycle.

Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases.

BACKGROUND: Intravenous recombinant enzyme replacement therapy (ERT) is currently available for 8 lysosomal diseases. Hypersensitivity reactions (HSRs) may be observed during this long-term treatment. OBJECTIVE: To evaluate the frequency and clinical treatment features of ERT HSRs and the management of desensitizations in children. METHODS: Medical records were reviewed retrospectively for patients who received ERT. Those who had experienced HSRs to ERT were included in the study. The demographic characteristics of the patients, culprit enzyme, signs and symptoms, diagnostic tests, management of the reaction, and the protocol employed for the maintenance of ERT were recorded. RESULTS: During the study period, 54 patients received ERT in our institution. A total of 11 patients (20.4%) experienced HSR to ERT. All reactions were of immediate type. The most common symptoms were cutaneous manifestations. A total of 9 patients experienced urticaria, and 2 had anaphylaxis as initial reaction. Patients who had isolated cutaneous symptoms continued their treatments with antihistamines, corticosteroid premedication, slower infusion rate or both. Patients who had recurrent urticaria with these modalities or those who had anaphylaxis continued their ERT with desensitization (n = 8). A total of 3 patients required revisions in desensitization protocols because of recurrent anaphylaxis. CONCLUSION: The reactions that develop during this long-term treatment may be treated by premedication-prolonged infusion, but in some patients, desensitization protocols are necessary for the continuation of therapy. Revisions in desensitization protocols may be required.

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

Background Progressive 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 presentation Here 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. Conclusion This 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.

A new technique in the evaluation of strangulated and incarcerated hernias: Near-infrared spectroscopy.

BACKGROUND: The present study aims to investigate the usefulness of NIRS in identifying decreased blood flow in intestinal tissue inside the hernial sac in incarcerated hernias. METHODS: Forty patients with manually irreducible inguinal hernias and with ileus determined by clinical findings and imaging were included in this study. Patients' intestinal oxygenations were measured by placing NIRS probes over the areas of inguinal hernia and over non-herniated areas immediately lateral to these. Differences in oxygenation between normal and herniated areas were evaluated. RESULTS: Forty patients, 14 women (35.0%) and 26 (65.0%) men, with a mean age of 65±14, were enrolled in this study. Intestinal oxygenation was lower in areas of irreducible hernia compared to normal regions (p<0.001). Incarceration and/or strangulation were detected when hernial sacs with low intestinal oxygenation were operated on. Low NIRS measurements were able to identify incarceration and/or strangulation in the intestine but were unable to distinguish between them. CONCLUSION: In conclusion, in the light of the findings of this study, although not capable of differentiating incarceration from strangulation, NIRS appears to be a good method for showing impaired intestinal oxygenation. NIRS can be used to support ultrasonography findings in irreducible hernias. Therefore, this technique could be used in the future to evaluate and monitor intestinal oxygenation in the Emergency Department.

[Childhood Traumas, Attachment and Alexithymia in Adolescentswith Psychogenic Nonepileptic Seizure Type of Conversion Disorder]. / Psikojenik Nöbet Tipinde Konversiyon Bozuklugu Olan Ergenlerde Çocukluk Çagi Travmalari, Baglanma ve Aleksitimi.

OBJECTIVE: In this cross-sectional study, childhood traumas, attachment security and alexithymia in adolescents with psychogenic nonepileptic seizures (PNES) were compared with those of adolescents without any psychiatric disorder using both semi-structured clinical interviews and self-report scales. METHOD: This study included 42 adolescents with PNES aged between 12-18 and 38 healthy adolescents who were matched with the study group in respect to socio-demographic variables. All adolescents and their parents were interviewed using Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version in order to evaluate psychiatric disorders. Clinician- Administered Posttraumatic Stress Disorder (PTSD) Scale for Children and Adolescents was used to examine the presence of PTSD symptoms. All adolescents completed the Childhood Trauma Questionnaire-28, Short Form of Inventory of Parent and Peer Attachment, Toronto Alexithymia Scale and Rosenberg Self Esteem Scale. RESULTS: Adolescents with PNES had more emotional and sexual traumatic experiences and PTSD symptoms compared to the control group. PNES group perceived higher "communication" but lower "trust" in attachment relationships with their mothers and fathers. Higher alexithymia and lower self-esteem were determined in the PNES group. Childhood traumas, lifetime PTSD symptoms and alexithymia were found to be significant risk factors for PNES in adolescents. CONCLUSION: Results indicate that comorbid psychiatric disorders, traumatic experiences, attachment problems and alexithymia need to be evaluated and treated in adolescents with PNES.

The Efficacy of Acupuncture in the Treatment of Bell's Palsy Sequelae.

OBJECTIVE: This study was planned to evaluate the effectiveness of acupuncture treatment for the treatment Bell's palsy sequelae. In this study, forty patients with Bell's palsy sequelae were randomly allocated to either the acupuncture or the control group. The clinical outcomes before and after treatment were assessed using the following assays: the facial nerve compound motor action potential and HouseeBrackmann (HB) and Sunnybrook (SB) grading scales. Agreement analysis was performed between the SB and HB grading scales. There was significant difference between pretreatment and posttreatment compound motor action potential values of the patients within the acupuncture group (p = 0.036). In pretreatment and posttreatment SB and HB scores, significant differences within the two groups were observed. However, the significance level in the improvement rate in the acupuncture group was higher than that of the control group. General agreement between the SB and HB scores of groups was an acceptable value, and weighted agreement between the scales was a moderate agreement. In this study, we found that acupuncture treatment is effective in improving Bell's palsy sequelae. Acupuncture can be used as a safe method in the treatment of Bell's palsy sequelae.