Cases of hypogonadotropic hypogonadism: A single-center experience.

Background: Delayed puberty (DP) affects approximately 2% of adolescents. In most patients of both genders, delayed puberty is due to constitutional delay in growth and puberty (CDGP); it is a self-limiting condition starting later than usual during puberty but progressing normally. Other causes of DP include permanent hypogonadotropic hypogonadism, functional hypogonadotropic hypogonadism, and gonadal insufficiency. Methods: Nine patients admitted to the Ankara Atatürk Sanatoryum Training and Research Hospital Pediatric Endocrinology Department with hypogonadotropic hypogonadism between January 2012 and December 2022 were analyzed. Results: Nine patients who applied to our pediatric endocrinology clinic with delayed puberty were analyzed. These nine patients were diagnosed and reported as hypogonadotropic hypogonadism with molecular methods. We aimed to determine the status of these cases from a molecular point of view, to emphasize the importance of hypogonadotropic hypogonadism in patients with delayed puberty, and to reveal the rarely encountered delayed puberty together with the clinical and laboratory data set of the patients. Conclusions: To emphasize the importance of hypogonadotropic hypogonadism, which is a rare cause of delayed puberty, the molecular predispositions of our patients followed in our clinic are reviewed, and the data we have provided will contribute to the accumulation of data in this area.

Ultrasound-guided erector spinae block versus mid-transverse process to pleura block for postoperative analgesia in lumbar spinal surgery.

BACKGROUND: In recent years, promising results were achieved with the use of ultrasound (US)-guided interfascial plane blocks for effective postoperative analgesia in several surgeries. Erector spina plane (ESP) block and mid-transverse to pleura plane (MTP) block are the latest techniques in this area. The aim of this prospective and randomized study was to compare the postoperative analgesic efficacy of bilateral ESP and MTP blocks in patients undergoing lumbar spinal surgery under general anesthesia (GA). METHODS: A total of 120 adult patients were included in the study and randomized into 3 groups: group ESP (n = 40), group MTP (n = 40) and group Control (n = 40). The patients in the group ESP received a bilateral block by injecting 20 ml of 0.25% bupivacaine at a vertebrae level in the mid-point of the incision before GA. The same LA was administrated bilaterally at the T12/L1 level in the group MTP. Postoperatively, a multimodal analgesic regimen including an intravenous tramadol patient-controlled analgesia (PCA), paracetamol and dexketoprofen was used in all groups. Postoperative pain was assessed using a visual analogue scale (VAS) during the first 48 postoperative hours. Pethidine was used as a rescue analgesic when VAS score was >3. Primary outcome measure was mean pain scores. Secondary outcome measures were consumption of rescue analgesic and the amount of tramadol delivered by PCA. A p < 0.05 was considered statistically significant. RESULTS: Mean VAS scores were significantly higher in the group Control than in the group MTP and group ESP at all-time points during 48 h (Control > MTP > ESP; p < 0.001). Mean VAS scores were lower in group ESP than group MTP in postoperative 12 h (p < 0.001). Rescue analgesic consumption, number of bolus demand on PCA, PCA bolus demand dose, total PCA dose, and complications related to opioid consumption were highest in control group and lowest in ESP group (Control > MTP > ESP; p < 0.001). CONCLUSION: Both ESP and MTP blocks provided effective pain relief after lumbar spinal surgery but the ESP block was superior to MTP block regarding postoperative analgesia in the first 24 h.

A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality and an atopic diathesis. We report a case of a 20-year-old male patient presented with pruritus, decreased sweat secretion and generalized erythema on his body. Netherton syndrome is caused by mutations in the SPINK5 gene that is a crucial role for epidermal barrier function in the skin. Different clinical and phenotypical features can occur based on various LEKTI-domains mutations. Diagnosis is made by the atopic story, hair shaft abnormality, cutaneous lesions and identification of the SPINK5 gene mutation. In our patient, we detected a new splice site mutation in the SPINK5 gene and pili annulati as hair abnormality. Affected patients are usually misdiagnosed because of cutaneous lesions such as atopic dermatitis. Therefore, each clinical finding should be evaluated together. We aimed to present a case with a new SPINK5 gene mutation and different clinical features in NS.

An eight-case 1q21 region series: novel aberrations and clinical variability with new features.

BACKGROUND: Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic facial features, eye abnormalities, cardiac defects, genitourinary anomalies, autism spectrum disorder, psychiatric conditions and seizures. Herein, we describe eight patients with 1q21 deletion and duplication syndromes, and novel deletions and findings. METHODS: Chromosomal microarray analysis was performed to identify the existence of copy number variation. Quantitative polymerase chain reaction was applied using specific primers for the control and 1q21 region of chromosome 1. Mutational analysis was performed in case 5 using direct genomic sequencing for exons 1-6 in RBM8A. RESULTS: Copy number variation analysis identified seven deletions and one duplication of the 1q21 region in the eight patients. In addition, four variations were de novo, and two deletions are reported here for the first time. One of the cases (case 7) presents moderate intellectual disability and dysmorphic facial findings, whereas chromosomal microarray analysis showed that case 7 had an 889-kb deletion in the 1q21 proximal region (GPR89A, PDZK1, CD160, POLR3C and NBPF12). CONCLUSION: Although the deletion in case 5 did not include the thrombocytopenia-absent radius syndrome critical region or the RBM8A gene, he had pectoral muscle hypoplasia, radius and humerus hypoplasia and short curved ribs, which are indicative of a potential thrombocytopenia-absent radius region modifier. The findings in case 7 suggest that the proximal part of the 1q21 microdeletion syndrome region might be very important for the onset of clinical manifestations. Some novel findings were observed in the presented cases, such as radius and humerus hypoplasia and brain stem hypoplasia. The presented findings expand the spectrum of 1q21 aberrations and provide evidence of genotype-phenotype correlations for this region.

Mitochondrial DNA copy number alterations in familial mediterranean fever patients.

OBJECTIVES AND BACKGROUND: Familial Mediterranean Fever (FMF) is characterized by recurrent fever episodes as a result of inflammation of serous membranes. Changes in the number of different mtDNA copy number variations, detected in FMF patients, who developed amyloidosis, might be an important parameter in the understanding of the pathophysiology of the disease. METHODS: Changes in the mtDNA copy number between 50 patients with FMF, who had M694V homozygote mutation and amyloidosis, and 50 healthy controls, who had not any MEFV mutation or FMF clinical finding, were examined. The 22 MEFV mutations were analyzed by Pyromark Q24 system. Quantitative analysis was performed on RT-PCR. The level of mtDNA was calculated using the delta Ct (ΔCt) of average Ct of mtDNA and nDNA (ΔCt = Ct mtDNA-Ct nDNA) in the same well as an exponent of 2 (2ΔCt). RESULTS: A significant decrease in the amount of mtDNA was detected in FMF patients with M694V homozygous mutation carriers, who developed amyloidosis compared to the control group (p < 0.001). CONCLUSION: In this study, mitochondrial dysfunction, which has been identified through changes in the mitochondrial genome in many diseases, was identified by showing that the copy number variations of mtDNA in leukocytes also decreased for FMF disease (Tab. 3, Fig. 1, Ref. 21).

Association between seroprevalence of measles and various social determinants in the year following a measles outbreak in Turkey.

OBJECTIVES: Despite an ongoing measles elimination programme, a measles outbreak occurred in 2013 in Turkey. Population-based seroprevalence studies are needed to determine seronegativity and explore the reasons for this outbreak. This study aimed to explore the seroprevalence of measles and its association with various social determinants in a provincial population in Turkey in the year following a measles outbreak. STUDY DESIGN: Cross-sectional study. METHODS: This study was conducted in Manisa Province in 2014 in a sample of 1740 people aged >2 years. The dependent variable was the seroprevalence of measles. Independent variables were sex, age, migration, household size, household density, income, education level, existence of chronic disease and occupational class. Blood samples were collected from participants at family health centres. The presence of specific measles antibodies in serum samples was determined using an anti-measles virus IgG enzyme-linked immunosorbent assay test. Chi-squared test and logistic regression analysis were performed. RESULTS: Overall, data from 1250 people were analysed. The seroprevalence of measles in the whole study population was 82.2% (95% confidence interval 80.0-84.2). Seroprevalence was 55.4% among subjects aged 2-9 years, 48.7% among subjects aged 10-19 years, 74.1% among subjects aged 20-29 years and 93.6% among subjects aged 30-39 years (P < 0.01). Seroprevalence in subjects aged >40 years was >95%. The lowest seroprevalence was found in primary school children (40.2%), followed by those below the age for primary education (69.8%) and secondary school graduates (75.1%). The prevalence of measles seronegativity was not associated with any of the social determinants when adjusted for age. CONCLUSIONS: The seroprevalence of measles was lower than expected in the study population and was particularly low in subjects aged <30 years of age despite previous vaccination. Seroprevalence was not associated with social determinants of health that confirmed either an even distribution of virus exposure or fair access to vaccination services. However, the current seroprevalence cannot be sufficiently effective to reach the measles elimination targets, suggesting that it may be necessary to re-evaluate the need for an extra dose of measles vaccine.

Trehalose enhances osmotic tolerance and suppresses lysophosphatidylcholine-induced acrosome reaction in ram spermatozoon.

This study was aimed to investigate the influence of trehalose on osmotic tolerance and the ability of ram spermatozoon to undergo acrosome reaction induced by lysophosphatidylcholine (LPC). In experiment 1, the diluted ejaculates were exposed to anisosmotic fructose solutions (70, 500, 750 and 1000 mOsm l(-1) ) with or without 50 mm trehalose. The presence of trehalose in hyperosmotic conditions enhanced (P < 0.05) the percentage of live, live-intact and intact spermatozoa. Similarly, trehalose enhanced (P < 0.05) the live and live-intact spermatozoa during hypo-osmotic conditions. In experiment 2, the centrifuged ejaculates were diluted with TCG only or TCG containing either 50 or 100 mm trehalose. The acrosome reaction was induced by LPC. The percentage of acrosome-reacted spermatozoon was less (P < 0.05) in trehalose-supplemented groups compared to control. In experiment 3, the ejaculates were cryopreserved in an extender containing 0 mm (control), 50 mm or 100 mm trehalose. Supplementation of extender with trehalose, either 50 mm or 100 mm, enhanced the cryosurvival rate (P < 0.05) compared to the control. In conclusion, the presence of trehalose in anisosmotic conditions enhances the osmotic tolerance, cryosurvival rate of ram spermatozoon and suppresses their ability to undergo LPC and cryo-induced acrosome reaction.

Retroperitoneal bronchogenic cyst mimicking an adrenal cyst: case report.

Bronchogenic cysts are rare lesions that form during early embryogenesis and are commonly located in the mediastinum. Retroperitoneal bronchogenic cysts (RBs) are exceptionally rare, with only a handful of cases reported in the modern literature. Here, we report an RB found incidentally on imaging in a patient with suspected nephrolithiasis. We also review the unique imaging and histopathological findings of this entity and discuss why prophylactic surgery is considered the treatment of choice.

An increasing threat in intensive care units: evaluation of multi-drug-resistant Myroides spp. infections and risk factors.

BACKGROUND: Myroides spp. are Gram-negative bacilli that are commonly found in soil and water, acting as low-level opportunistic pathogens and causing a variety of infections. AIM: To assess the risk factors for multi-drug-resistant myroides infections, association with comorbid illnesses, patient care and susceptibility to antibiotics. METHODS: This retrospective analytical study was conducted in Istanbul Basaksehir Çam and Sakura City Hospital, and included patients with Myroides spp. isolated in their culture samples. Total hospitalization days, first isolation day and 30-day mortality values of the patients were analysed statistically, and P<0.05 was considered to indicate significance. RESULTS: Myroides spp. were isolated from 437 culture samples from 228 patients. Of these cases, 210 (92.1%) were classified as having asymptomatic bacteriuria, and 18 (7.9%) as having an infection caused by Myroides spp. One hundred and seventy-four (76.3%) patients were followed up in the intensive care unit, and total hospitalization days (median 24.5 days) and first isolation day (median 9.5 days) of infected patients were shorter than those for colonized patients (P=0.023 and 0.030, respectively). No difference was found in 30-day mortality between infected and colonized patients (P=0.312). CONCLUSIONS: Myroides infections were seen more frequently in patients who were hospitalized for a long time, used broad-spectrum antimicrobials, underwent invasive procedures, and had co-factors such as diabetes and cerebrovascular disease. In addition, the resistance rates of Myroides odoratus were higher than those of Myroides odoratimimus, and the use of quinolones for the treatment of patients with M. odoratimimus infection led to a higher cure rate.

Liver resection of colorectal liver metastases in elderly patients.

BACKGROUND: The percentage of elderly patients with colorectal liver metastases (CLM) has increased. Liver resection remains the only curative therapy; data evaluating the outcome in this age group is limited. Aim of the present study was to determine if postoperative morbidity, mortality, and other independent predictors influence survival in patients ≥ 70 years undergoing liver resection for CLM. METHODS: Clinical data on primary tumor and metastases of 939 patients after liver resection for CLM between 1994 and 2008 were retrospectively collected and subdivided in three age-groups (≥ 70, 40-69, <40). Independent predictors of survival were evaluated with overall and age-specific univariate and multivariate Cox regression models. RESULTS: A total of 939 patients underwent liver resection for CLM, 20.3% aged ≥ 70 years. Overall postoperative mortality and morbidity were 1.08 and 14.82%, revealing no age-related differences. With 5-year survival of 31.8% in the elderly and 37.5% in the mid-age population, age ≥ 70 years was linked with decreased survival (Hazard Ratio [HR] = 1.305; P = 0.0186). Multivariate overall analyses showed size of CLM > 50 mm (HR = 1.376; P = 0.0060), a high amount of transfusion during surgery (HR = 1.676; P = 0.0110), duration of surgery >210 min (HR = 1.241; P = 0.0322), primary UICC (International Union Against Cancer) stage IV (HR = 2.297; P < 0.0001), and performance of repeat resections (HR = 0.652; P = 0.0107) as independent predictors of survival. In the elderly group, effects of UICC IV (HR = 3.260; P = 0.0148) and high numbers of transfusions (HR = 3.647; P = 0.0129) were confirmed; the others did not show statistical significance. CONCLUSIONS: Resection of CLM at older age is feasible with morbidity and mortality rates similar to those in younger patients. Although age ≥ 70 was shown to be associated with poorer overall outcome, reasonable 5-year survival was observed.

Baller-Gerold syndrome associated with dextrocardia.

Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not previously been reported with Baller-Gerold syndrome. To the best of our knowledge, this is the first reported case of Baller-Gerold syndrome associated with dextrocardia.

Congenital myasthenic syndrome: a case report.

SUMMARY: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.

Unilateral vocal fold agenesis: an unusual cause of dysphonia.

Unilateral vocal fold agenesis: an unusual cause of dysphonia. Unilateral vocal fold agenesis is a rare congenital laryngeal anomaly. To our knowledge, there have been no published reports about this clinical entity to date. A 6-year-old female patient was referred to our practice for persistent hoarseness of voice since birth. On physical examination, her voice was hoarse and reduced in volume. She had facial features typical of Down syndrome and macroglossia. Laryngeal examination revealed the absence of the right vocal fold. She had no further evaluation or treatment.

Multileaf collimator end leaf leakage: implications for wide-field IMRT.

The multi-leaf collimator (MLC) of a particular linear accelerator vendor (Millennium MLC, Varian Medical Systems, Palo Alto, CA, USA) has a maximum leaf extension of 14.5 cm. To achieve intensity modulated radiotherapy (IMRT) for fields wider than 14.5 cm all closed leaf pairs are restricted to placement inside the field. Due to the rounded leaf end design of the MLC end leaf leakage will occur in the treatment field. The implementation of direct aperture optimization in the IMRT module of a radiotherapy treatment planning system (Pinnacle, Philips Radiation Oncology Systems, Milpitas, CA) has facilitated the delivery of IMRT fields wider than 14.5 cm. The end leaf leakage of the Millennium MLC has been characterized for 6 MV photons using gafchromic and radiographic film, and the accuracy of the planning system verified. The maximum leakage measured for a single field was 0.39 cGy MU(-1) for a 0 mm leaf gap and 0.51 cGy MU(-1) for a 0.6 mm leaf gap. For a clinical IMRT field leaf end leakage contributed an additional 2-3 Gy over the course of treatment. The planning system underestimated the magnitude of end leaf leakage by 20-40%. The ability to deliver IMRT fields wider than 14.5 cm with the Millennium MLC has improved the efficiency and flexibility of IMRT treatments; however, significant extra dose can be introduced due to end leaf leakage. Caution should be exercised when delivering wide field IMRT as it is not a complete panacea. Any significant occurrences of end leaf leakage predicted by the planning system should be independently verified prior to delivery.

An angiomatous nasal polyp: a very rare variant of sinochoanal nasal polyps.

Angiomatous polyps are the extremely rare variant of sinochoanal polyps that are characterised by dilated, large vascular spaces. A 27-year-old female patient presented with a three-month history of unilateral right-sided nasal obstruction and recurrent mild epistaxis. Paranasal computed tomography demonstrated a mass in the right maxillary sinus extending through the nasal cavity. It was resected with both endonasal endoscopic and Caldwell-Luc approaches. Histopathological examination identified an angiomatous nasal polyp. Follow-up of thirteen months showed no recurrence.

Potential errors in relative dose measurements in kilovoltage photon beams due to polarity effects in plane-parallel ionisation chambers.

Plane-parallel ionisation chambers are regularly used to conduct relative dosimetry measurements for therapeutic kilovoltage beams during commissioning and routine quality assurance. This paper presents the first quantification of the polarity effect in kilovoltage photon beams for two types of commercially available plane-parallel ionisation chambers used for such measurements. Measurements were performed at various depths along the central axis in a solid water phantom and for different field sizes at 2 cm depth to determine the polarity effect for PTW Advanced Markus and Roos ionisation chambers (PTW-Freiburg, Germany). Data was acquired for kilovoltage beams between 100 kVp (half-value layer (HVL) = 2.88 mm Al) and 250 kVp (HVL = 2.12 mm Cu) and field sizes of 3-15 cm diameter for 30 cm focus-source distance (FSD) and 4 × 4 cm2-20 × 20 cm2 for 50 cm FSD. Substantial polarity effects, up to 9.6%, were observed for the Advanced Markus chamber compared to a maximum 0.5% for the Roos chamber. The magnitude of the polarity effect was observed to increase with field size and beam energy but was consistent with depth. The polarity effect is directly influenced by chamber design, with potentially large polarity effects for some plane-parallel ionisation chambers. Depending on the specific chamber used, polarity corrections may be required for output factor measurements of kilovoltage photon beams. Failure to account for polarity effects could lead to an incorrect dose being delivered to the patient.

Reactive oxygen species mediate abnormal contractile response to sympathetic nerve stimulation and noradrenaline in the vas deferens of chronically diabetic rats: effects of in vivo treatment with antioxidants.

Previous studies suggest that a link exists between increased oxidative stress and diabetic neuropathy. Moreover, antioxidants may protect neurones from the degenerative effects of reactive oxygen species. In our study, we used streptozotocin (STZ)-diabetic rats in a 8-month chronic diabetes model to study the effects of in vivo treatment with stobadine (ST), a pyridoindole antioxidant, and vitamin E. STZ-diabetic rats were treated with ST (24.7 mg/kg/day), vitamin E (D,L-alpha-tocopheryl acetate, 400-500 IU/kg/day) or ST plus vitamin E through an intra-oral catheter for a 8-month period beginning 10 days after STZ injection. Blood glucose and HbA1c levels were increased in diabetic rats by about 400 and 100%, respectively. Antioxidant treatment significantly decreased haemoglobin glycosylation (P < 0.05). We also determined the effects of chronic diabetes on sympathetic neurotransmission by measuring the contractility of isolated vas deferens. Furthermore, we investigated contractions elicited by electrical field stimulation (EFS) (1-64 Hz) which were significantly decreased in diabetic rats when compared with control rats. Treatment with ST or vitamin E alone partly enhanced the amplitude of the contractions induced by EFS, but a combination of ST and vitamin E treatment showed no additional effects. Contractile response of the vas deferens to exogenous noradrenaline, was increased in diabetic rats when compared with control rats. While the addition of vitamin E alone had no effect, ST completely returned noradrenaline-induced contractions to basal levels. The tension induced by 120 mm KCl was not statistically different among the experimental groups. In normal rats, EFS-induced contractions were significantly inhibited by pyrogallol (10(-4) m), a free-radical generator. Percentage inhibition of pyrogallol on EFS (32 Hz)-induced contractions in ring sections was 48 +/- 5.8 in control, 75 +/- 5.5 in untreated-diabetic, 54 +/- 2.7 in ST-treated diabetic, and 58 +/- 4.7 in vitamin E-treated diabetic rats. Combining both ST and vitamin E treatment had the same effects as each antioxidant alone with a percent inhibition of 48 +/- 6.8. These results are consistent with the degenerative changes seen in sympathetic nerves and the abnormal function observed in chronically diabetic rats, leading to a decrease in EFS response and an increase in response to adrenergic agonists in the vas deferens. Furthermore, we demonstrated that reactive oxygen species are responsible for impaired sympathetic neurotransmission and abnormal function of diabetic vas deferens, and that a combination of antioxidants may be better for the therapy of reproductive system disabilities in male diabetics.

The effects of transcranial electrical stimulation on anaesthesia and analgesia in rats.

In this study, we determined the effects of transcranial electrical stimulation (TCES) on the anaesthetic requirements of thiopental and the analgesic requirements of remifentanil, in rats. The experiments were performed on 120 albino male Wistar rats, which were randomly allocated to four groups (n=30). (Thiopental, Thiopental+TCES, Thiopental+Remifentanil, and Thiopental+Remifentanil+TCES). Animals were anaesthetized with thiopental, and 15 min later, remifentanil was injected to rats in the Remifentanil groups. TCES was started in the stimulated groups 20 min after thiopental administration. Rats were stimulated 5 times for this experiment. The times for recovery, herein called Cognition Recovery Time and Motion Recovery Time were measured. Cognition Recovery and Motion Recovery Times were not affected by the stimulation. Analgesia was assessed using the wet tail-flick latency (TFL). In the Thiopental group, the analgesia level returned to control values on the 35th min. In the Thiopental+Remifentanil group, the analgesia level returned to control values on the 50th min. In the Thiopental+ TCES group, the analgesia level reached the peak value on the 65th min. In the Thiopental+Remifentanil+TCES group, the analgesia level reached the peak value on the 35th min and analgesia remained high during the 90 min after cessation of the stimulation. The analgesic potency for the Thiopental+Remifentanil+TCES group was increased by 30-40% when compared with the prior TFL values, 160% when compared with the control group, and 50-75% when compared with Thiopental+TCES group on the 35th min (P<0.001). In conclusion, TCES markedly decreases the anaesthetic and analgesic requirements for thiopental and remifentanil in rats.