Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder.

Raynaud-Claes syndrome is rare condition characterized with intellectual disability and is caused by X-linked pathogenic variants in CLCN4 gene. Hemizygous missense variant NM_001830.4: c.1597G>A (p.V533M) was detected in a 6-year-old male followed up with intellectual disability, dysmorphism, and epileptic encephalopathy. The mother and one sister of the patient were also carrying the same variant. The clinical picture of the patient was significantly more severe, and the patient exhibited nonconvulsive status. Tonic status was observed with benzodiazepine treatment and the patient was successfully treated with a ketogenic diet. Many types of seizures can be seen in Raynaud-Claes syndrome, some of which can be life-threatening. CLCN4 variants can be investigated in patients who exhibit an increase in tonic seizures with benzodiazepine treatment. However, ketogenic dietary therapy as first-line treatment can be lifesaving in resistant epilepsy cases caused by the CLCN4 gene.

The prevalence of premature ejaculation in young Turkish men.

This study was conducted to investigate the prevalence of premature ejaculation (PE) in young Turkish men and to evaluate PE in a population having good physical and mental health. A total of 1230 healthy university graduates aged between 24 and 30 attending the police academy having no physical or mental problems were included in the study. To identify the presence of PE, the participants were asked to complete the premature ejaculation diagnostic tool (PEDT). The mean ages in the PE and non-PE group were 27.3 and 26.7 respectively. There was no statistically significant difference between the two groups concerning age, body mass index (BMI), smoking status and alcohol consumption (P > 0.05). The PE prevalence was found to be 9.2%. The mean PEDT score was calculated as 6.3. Of the participants, 92 scored 11 and higher (9.2%), 66 scored 9 and 10 (6.6%), and the remaining 842 obtained a score equal to or lower than 8 (84.2%). The lower prevalence of PE in young Turkish men compared to the results of studies in the literature can be attributed to the physical and mental well-being of the participants. This study showed that the prevalence of PE in young men with good physical and mental health is lower than that found in the literature.

Association between serum folic acid level and erectile dysfunction.

This study measured the serum folic acid (FA) level in patients with erectile dysfunction (ED) and evaluated the possible association between the serum FA level and erectile function. The study divided 120 patients with ED into 3 groups of 40 patients each: those with severe, moderate and mild ED. Forty healthy men served as controls. Fasting serum samples were obtained, and the total testosterone, cholesterol and FA levels were measured using chemiluminescent immunoassays. There were no significant differences in the mean age, mean body mass index or mean serum total testosterone and cholesterol levels among the three ED groups and controls (P > 0.05). The mean serum FA concentrations were 7.2 ± 3.7, 7.1 ± 3.2, 10.2 ± 4.6 and 10.7 ± 4.6 ng ml(-1) in the severe, moderate and mild ED and control groups respectively. The mean serum FA concentration was significantly higher in the control group than in the severe and moderate ED groups (both P < 0.001), but not the mild ED group (P = 0.95). Considering the significant differences in the serum FA levels between the control and ED groups, serum FA deficiency might reflect the severity of ED.

Los parámetros espermáticos significativos que empeoran están asociados con la hipotrofia testicular en pacientes con varicocele de alto grado / Significant worsening sperm parameters are associated to testicular hypotrophy in patients with a high grade varicocele

Objetivo: Investigar la relación entre el volumen testicular y los parámetros seminales en pacientes con varicocele izquierdo de alto grado unilateral. Material y métodos: Ciento ochenta y siete pacientes que tenían varicocele izquierdo de alto grado de entre 19 y 25 años fueron incluidos en este estudio. Todos los pacientes se sometieron a una evaluación estándar, incluyendo historia clínica y examen físico. Se calculó la diferencia de porcentaje de volumen testicular entre los testículos derecho e izquierdo. Los pacientes fueron divididos en los siguientes 3 grupos: grupo 1 (n = 72) diferencia de volumen testicular < 10%; diferencia de volumen testicular 10-20% grupo 2 (n = 74); y diferencia de volumen testicular > 20% grupo 3 (n = 41). Resultados: La media de edad y el IMC de los pacientes fueron de 21,5 años y 23,1 kg/m2, respectivamente (p = 0,596, p = 0,943). Se compararon los parámetros seminales y los volúmenes testiculares de los 3 grupos. Se descubrió que el recuento total de espermatozoides móviles, porcentaje de espermatozoides móviles y porcentaje de espermatozoides de morfología normal eran menores en el grupo 3 (p = 0,011, p = 0,012, p = 0,029, respectivamente). Se encontró que los volúmenes testiculares medios para el testículo izquierdo y derecho eran 15,2 cm3 y 17,7 cm3 (p < 0,001), respectivamente. No se encontraron diferencias significativas en los volúmenes testiculares derechos entre los grupos (17,4, 17,7 y 18,1 cm3; p = 0,573). Conclusiones: Un varicocele testicular izquierdo de alto grado se asocia con hipotrofia testicular ipsilateral y paralela a los parámetros del esperma empeorado

Objective: To investigate the relationship between testicular volume and semen parameter sin patients with unilateral high grade left varicocele. Material and methods: One hundred eighty seven patients who had left high grade varicocele aged 19-to-25 years were included in this study. All patients underwent a standard evaluation, including medical history and physical examination. The percentage testicular volume difference between the right and left testicles was calculated. The patients were divided into the following three groups; Group 1 (n = 72) testicular volume difference < 10%, testicular volume difference 10%-20% Group 2 (n = 74) and testicular volume difference > 20% Group 3 (n = 41). Results. The mean age and BMI of the patients were 21.5 years and 23.1 kg/m2, respectively (P = .596,P = .943). The semen parameters and testicular volumes of the three groups were compared. The total motile sperm count, percentage of motile sperm, percentage of normal morphology sperm were found to be lower in Group 3 (P = .011, P = .012, P = .029 respectively). The mean testicular volumes for the left and the right testis were found to be 15.2 cm3 and 17.7 cm3 (P < .001), respectively. No significant difference was found in the right testicular volumes between groups (17.4, 17.7 and 18.1 cm3, P = .573). Conclusions: A high grade left testicular varicocele is associated with ipsilateral testicular hypotrophy and parallel to worsened sperm parameters

Significant worsening sperm parameters are associated to testicular hypotrophy in patients with a high grade varicocele.

OBJECTIVE: To investigate the relationship between testicular volume and semen parameter sin patients with unilateral high grade left varicocele. MATERIAL AND METHODS: One hundred eighty seven patients who had left high grade varicocele aged 19-to-25 years were included in this study. All patients underwent a standard evaluation, including medical history and physical examination. The percentage testicular volume difference between the right and left testicles was calculated. The patients were divided into the following three groups; Group 1 (n=72) testicular volume difference <10%, testicular volume difference 10%-20% Group 2 (n=74) and testicular volume difference >20% Group 3 (n=41). RESULTS: The mean age and BMI of the patients were 21.5 years and 23.1kg/m(2), respectively (P=.596, P=.943). The semen parameters and testicular volumes of the three groups were compared. The total motile sperm count, percentage of motile sperm, percentage of normal morphology sperm were found to be lower in Group 3 (P=.011, P=.012, P=.029 respectively). The mean testicular volumes for the left and the right testis were found to be 15.2cm(3) and 17.7cm(3) (P<.001), respectively. No significant difference was found in the right testicular volumes between groups (17.4, 17.7 and 18.1cm(3), P=.573). CONCLUSIONS: A high grade left testicular varicocele is associated with ipsilateral testicular hypotrophy and parallel to worsened sperm parameters.

Use of intramedullary fully-threaded pins in the fixation of feline and canine humeral, femoral and tibial fractures.

Intramedullary fully-threaded pins were manufactured from an alloy of titanium, aluminium and vanadium in a fully-threaded style. Pins were produced in various diameters, ranging from 4 mm to 11 mm. Pin lengths varied from 5 cm to 22 cm. The proximal end of the pins was designed to fit into a hexagonal screwdriver, while the distal end was slightly tapered to allow for ease of entry into cancellous bone. Treatment using the fully-threaded intra- medullary pin was carried out in a total of 175 fractures of the humerus, femur, and tibia in 95 cats (bilateral femur in 1 case) and 77 dogs (bilateral femur in 2 cases). Radiographic follow-up for the cases was performed at monthly intervals. Non-union developed in one dog with a femoral fracture in which cerclage wire had also been used. Delayed healing and lameness were observed in two other dogs. Healing with excessive callus formation was observed in 16 dogs. However, there were not any problems noted in these dogs in regards to limb usage. Clinical and radiological results obtained for the remaining cases were found to be very good. Normal, complete fracture healing occurred between four to 14 weeks in dogs, and between four to 12 weeks in cats. Pins were removed upon observation of satisfactory functional and radiographic recovery. Pins could not be removed from 26 cats and 21 dogs as the owners had declined pin removal, or because the owners were lost to follow-up.

H1N1 infection in a cohort of hematopoietic stem cell transplant recipients: prompt antiviral therapy might be life saving.

Influenza A H1N1 virus, causing a pandemic since spring 2009, has been an important cause of morbidity and mortality worldwide. Patients with hematological malignancies and hematopoietic stem cell transplant (HCT) recipients are in a high-risk group and might require hospitalization more commonly because of H1N1 infection. Early demonstration of H1N1 influenza virus and commencing antiviral therapy promptly can be life saving particularly in immunosuppressed patients. We retrospectively reviewed the data of 10 HCT recipients who were diagnosed with influenza H1N1 infection at the Stem Cell Transplantation Unit of Gazi University Hospital in Turkey, from October through December 2009. All patients, except 1, were started empirically on oseltamivir on admission, after nasopharyngeal and oropharyngeal sampling for H1N1 virus. Four of the patients, 2 of whom developed pneumonia, required hospitalization. One of the patients with pneumonia died of respiratory failure caused by bacterial co-infection. The course of the remaining patients was uneventful. In conclusion, HCT recipients infected with H1N1 during the influenza H1N1 pandemic did not necessarily have an adverse prognosis, particularly with prompt administration of the appropriate antiviral therapy.

Hematopoietic stem cell transplantation in patients with active fungal infection: not a contraindication for transplantation.

Increasing use of more aggressive treatment approaches in patients with hematologic malignancies leads to an increased frequency of invasive fungal infections, which is a major cause of transplant-related mortality in hematopoietic stem cell recipients. In this respect, the presence of an active fungal infection prior to transplantation may hinder subsequent hematopoietic stem cell transplantation (HSCT); which sometimes is the only curative treatment. We report here the results of 13 consecutive patients transplanted with active fungal infection. Thirteen patients (7 males and 6 females) with a median age of 34 years (range, 16-53 years) underwent 15 HSCT between September 2003 and April 2007. In this group of 15 patients, consisting of hematologic malignancies with high risk of relapse or severe aplastic anemia, 11 (73%) transplants performed in subjects with active invasive fungal infection (IFI) patients survived 30 days after transplantation. Three patients (1 patient with primary disease relapse, 1 patient with graft versus host disease [GVHD] complicated with fungal pneumonia, and 1 patient with severe sinusoidal obstruction syndrome and GVHD complicated with aspiration pneumonia) died on days +66, +74, and +62 posttransplantation, respectively, within the first 100 days of HSCT. After a median follow-up time of 306 days (range, 145-680 days), four of 13 (31%) patients with active IFI were alive and disease free. Among a population of HSCT recipients with a dismal prognosis without transplantation, performing the procedure despite active IFI saved a considerable proportion of the patients. The presence of active IFI did not seem to be an absolute contraindication for HSCT, particularly among high-risk patients in whom a treatment delay could be fatal.

Age and duration of disease as factors affecting clinical findings and sacroiliitis in brucellosis.

OBJECTIVE: Brucellosis may be seen in any age group, but it still involves young and middle aged adults more frequently. Our aim was to investigate the relationship between age and the duration of disease on clinical findings of brucellosis in adults in this study. PATIENTS AND METHOD: One hundred and sixty-three patients with brucellosis, treated in our hospital, between 1997 and 2003, were evaluated retrospectively. RESULTS: Fever was found in 60.7% of the patients, and it was significantly higher when the duration of disease was less than one month (p = 0.03). Fever was significantly lower in the > or = 65 age group (p = 0.01). Sacroiliitis was detected in 44.1% of patients. Sacroiliitis was significantly higher in the 15-35 age group (p = 0.03). There were no differences between age groups and other clinical and laboratory findings. CONCLUSIONS: Sacroiliac involvement was noted particularly in young adults who manifested lumbar pain and fever, but this might not be a major symptom of brucellosis in the elderly, or in patients showing symptoms for more than a month.

Bilateral pes valgus in an Anatolian Sheepdog.

A 15-month-old, male, Anatolian Sheepdog weighing 45 kg, was admitted with uneven stance in both hindlegs, a condition it had had since the age of six months. Radiographs of both hindlimbs revealed lateral deviation of 26 degrees in the distal metaphysis of the left tibia and 32 degrees in the distal metaphysis of the right tibia. Corrective osteotomy was used to treat the deformity. Both tibias were aligned with the closed wedge osteotomy and a suitably curved plate was placed on both bones. In the assessment prior to the removal of both plates, it was determined that a valgus deformation of 6 degrees was still present. However, this did not affect the gait, nor did it have an abnormal effect on the cosmetic appearance. It was concluded that if corrective osteotomy is performed before any degenerative changes have taken place, the outcome will be successful.

Nitric oxide (NO) metabolism in the cerebrospinal fluid of patients with severe head injury. Inflammation as a possible cause of elevated no metabolites.

BACKGROUND: This article investigates nitric oxide (NO) metabolism following severe head injury (SHI). We wished to clarify the alterations of NO metabolism end products that is associated with SHI, and to delineate the role of inflammation in this process. METHODS: In a prospective study, we simultaneously measured the concentrations of NO metabolites and interleukin-8 (IL-8) in the ventricular cerebrospinal fluid (CSF) of 11 patients who had suffered SHI. The CSF concentrations of nitrite (NO(-)(2)) and nitrate (NO(-)(3)) combined, and of IL-8 were measured during the following four time periods post-trauma: 6 to 10, 20 to 28, 40 to 56, and 64 to 74 hours. Levels were measured using the corresponding kits. RESULTS: Compared to the ventricular CSF control values, all of our SHI patients had significantly elevated CSF levels of NO(-)(2) plus NO(-)(3) (NO(-)(2) + NO(-)(3)) and IL-8 during all periods tested. CSF NO(-)(2) + NO(-)(3) and IL-8 concentrations reached their maximums simultaneously at 20 to 28 hours following trauma (Spearman's rank correlation = 0.609, p < 0.05), and NO(-)(2) + NO(-)(3) levels were significantly higher than those measured at 6 to 10, 40 to 56, and 64 to 74 hours. [Nitrite-nitrate concentrations: 6-10 hours: 19.22 +/- 6.75, 20-28 hours: 25 +/- 6.2 micromol/l, 40-56 hours: 19.82 +/- 4.47, and 64-74 hours: 19.72 +/- 4.61 micromol/l, (p < 0.05). IL-8 concentrations: 6-10 hours: 3,232 +/- 2,976.2, 20-28 hours: 3,458.45 +/- 3,048 pg/mL, 40-56 hours: 2,616.41 +/- 2,539.21, 64-74 hours: 1,388.88 +/- 1,216.7 pg/mL, (p < 0.001).]. This simultaneous surge in NO(-)(2) + NO(-)(3) and IL-8 in the initial 24 hours post-traumatic indicated that inflammation secondary to SHI increased the rate of NO metabolism, resulting in higher levels of metabolites in the CSF. CONCLUSION: In patients with SHI, CSF concentrations of the dominant metabolites of NO are elevated in the first 3 days after trauma. A similar concurrent spike in the CSF level of IL-8, a marker of acute inflammatory response, can also be demonstrated. These data indicate that the predominant cause of the higher CSF NO(-)(2) + NO(-)(3) concentrations observed in SHI is most likely inflammation.

The significance of neuron specific enolase levels in cerebrospinal fluid and serum after experimental traumatic brain damage.

In the posttraumatic period, measurement of neural tissue enzymes in serum and cerebrospinal fluid gives quantitative information about the severity of the head injury. In our study, we evaluated the relationship between the serum and cerebrospinal fluid levels of neuron specific enolase and the severity of trauma. Head traumas at different severity were applied experimentally (Mild 0.038 N, Moderate 0.057 N, Severe 0.3 N). Serum and cerebrospinal fluid levels of neuron specific enolase were measured in trauma and control groups of rats. Only in the severe trauma group, the neuron specific enolase levels of cerebrospinal fluid were significantly increased. There was no statistically significant difference between the groups when serum neuron specific enolase levels were evaluated. Our data leads us to conclude that trauma, causing significant neural damage, results in an increase in cerebrospinal fluid neuron specific enolase levels, however the serum neuron specific enolase levels do not seem to run parallel with that increase.

[Value of neuraminic acid as a clinical parameter in 42 patients with small-cell bronchial cancer]. / Der Wert der Neuraminsäure als klinischer Parameter bei 42 Patienten mit kleinzelligem Bronchialkarzinom.

The serum concentrations of neuraminic acid, CEA, gamma-Gt, 5-nucleotidase, haptoglobin, and alkaline phosphatase were determined before therapy and three and six months after the initiation of therapy in 42 patients with small cell bronchial carcinomas. Before therapy, a significantly increased serum concentration as compared to normal values was found for neuraminic acid in 97% of patients (43/44), for CEA in 54.7% (23/42), for gamma-Gt in 19% (8/42), for 5-nucleotidase in 11.9% (5/42), for haptoglobin in 36.3% (14/44), and for alkaline phosphatase in 9.5% of all patients (4/42). Three and six months later, these laboratory investigations did not give any valuable hint with respect to therapy results, with the exception of neuraminic acid (p less than 0.05). Prior to therapy, the concentrations of neuraminic acid were considerably increased in patients (mean = 3.16 +/- 0.47 mumol/ml) with regard to normal values (mean = 1.90 +/- 0.14 mumol/ml). Within the total group of 42 patients suffering from small cell bronchial carcinomas, there was no significant difference between the serum concentrations of neuraminic acid of eleven patients with localized tumors (mean = 3.12 +/- 0.53) and those of 31 advanced tumor patients (mean = 3.16 +/- 0.45) (p less than 0.05). During the six months' treatment period, the concentration of neuraminic acid was valuable as clinical parameter in 36 patients, i.e. 85% of all cases (0.001 less than p less than 0.01). It was shown that the serum concentration of neuraminic acid indicated a regression of the disease in 23 patients (p less than 0.001), a progression in 8 patients (0.02 less than p less than 0.05), and a regression with subsequent progression of the tumor in 5 patients (0.001 less than p less than 0.01).

[Neuraminic acid (NANA) in the serum as an indicator in breast cancer]. / Neuraminsäure (NANA) im Serum als Indikator beim Mammakarzinom.

The serum concentration of neuraminic acid and the carcino-embryonic antigen (CEA) were measured in 178 patients with diagnosed mammary carcinoma and 114 control patients. Among these 178 patients, 16 showed a local recurrence, 68 were tumor-free, and 94 had distant metastases. Only 42 out of these 94 patients kept the check-up appointments. During six months, they were regularly examined and treated with cytostatic drugs. The neuraminic acid levels corresponded mostly to the clinical state and the response to chemotherapy of these patients. All of the 94 patients with generalized mammary carcinoma had a significantly increased neuraminic acid concentration in the serum (p less than 0.001). The serum levels were not modified in 16 patients with local recurrences and in 68 tumor-free patients. The CEA values did not correspond to the serum neuraminic acid levels and the clinical state of the patients. The increase of the neuraminic acid concentration in the serum of these 42 patients with metastatic mammary carcinomas show that this parameter is a valuable indicator for the progression of this disease.