RESUMEN
VPS13D is a recently described gene. Worldwide, only 15 families with 23 affected individuals have been reported with a VPS13D-based disease. Mutated VPS13D causes a complex phenotype with a hyperkinetic movement disorder and ataxia, especially in childhood onset disease. The clinical phenotype of the rare adult-onset cases consists of cerebellar ataxia and/or spastic paraplegia. Here, we report the extensive clinical, laboratory and genetic findings of two offspring from consanguineous parents, with ages of disease onset at 57 and 49 with VPS13D-based ataxia. Although conventional magnetic resonance imaging showed mild cerebellar and cerebral atrophy, diffusion tensor imaging, applied for the first time for VPS13D patients, revealed prominent atrophy in U fibers and cerebellopontine tracts. Whole exome sequencing analysis revealed a biallelic Ala4210Val mutation in the VPS13D, reported only once in the literature. Complementary screening of our in-house database consisting of 295 ataxia and hereditary spastic paraplegia patients revealed two further ataxia patients with novel VPS13D variants. Screening the control cohort for VPS13D variants revealed one asymptomatic individual carrying a novel VPS13D variant. In this study, the phenotypic spectrum of VPS13D-based disease is expanded with the description of pre-senile onset predominant ataxia. Further, with the additional novel mutations described, the report is expected to contribute to the understanding of the yet elusive phenotype-genotype correlations in the rare VPS13D-based movement disorder.
Asunto(s)
Ataxia Cerebelosa , Paraplejía Espástica Hereditaria , Humanos , Masculino , Ataxia , Atrofia , Ataxia Cerebelosa/genética , Imagen de Difusión Tensora , Mutación , Linaje , Fenotipo , Proteínas/genética , Hermanos , Paraplejía Espástica Hereditaria/diagnóstico , Paraplejía Espástica Hereditaria/genética , Persona de Mediana EdadRESUMEN
SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) was performed. Brain magnetic resonance imaging (MRI), including DTI, and single-photon emission computed tomography (SPECT) were used to study the primarily affected tracts and regions. WES revealed the previously reported heterozygous truncating mutation in ubiquitin ligase domain of STUB1 (ENST00000219548:c.823_824delCT, ENSP00000219548:p.L275Dfs*16) leading to a frameshift. Patient's cognitive status was compatible with CCAS. Novel clinical features different from the original report include later onset chorea, dystonia, general slowness of movements, apraxia, and palilalia, some of which have been recently reported in two families with different STUB1 mutations. CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms. DTI may be helpful for demonstrating the cerebello-frontal tracts, involved in CCAS-associated SCA48, the differential diagnosis of which may be challenging especially in its early years.
Asunto(s)
Ataxias Espinocerebelosas/genética , Ataxias Espinocerebelosas/patología , Ubiquitina-Proteína Ligasas/genética , Ataxia , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Disfunción Cognitiva/diagnóstico por imagen , Disfunción Cognitiva/etiología , Disfunción Cognitiva/genética , Disfunción Cognitiva/patología , Familia , Femenino , Heterocigoto , Humanos , Persona de Mediana Edad , Mutación , Linaje , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/diagnóstico por imagen , Turquía , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Secuenciación del ExomaRESUMEN
Abstract: Double pylorus is one of the rare endoscopic findings consisting of two communication channels between the gastric antrum and the first part of the duodenum. It has no specific signs and symptoms. It is usually detected incidentally during endoscopic examination performed with nonspecific dyspeptic complaints such as epigastric pain, nausea, vomiting, and bloating. But contrary to expectations our patient applied to the emergency department with the complaint of melena that had been going on for 3 days. Her hemoglobin value was 9.7 mg/dL, blood ure nitrogen value was 65 mg/dL. Rectal touch examination was compatible with melena. In the emergency endoscopy of the patient, two channels were seen in the pylorus region. In the accessory canal, there was an ulcer of 10 mm in size with adherent dots and white exudate. The biopsy was reported as chronic gastritis due to H.pylori infection. Ibuprofen treatment used by the patient was discontinued and the patient was given high double dose PPI and H.pylori eradication therapy. Double pylorus, which is usually found incidentally in endoscopy with nonspecific findings, may very rarely present with GI bleeding findings, as in our patient. It is necessary to avoid risk factors in double pylorus, to give antiulcer and H.pylori treatment in its presence for an optimal time regardless of whether the double pylorus continues or not.
Asunto(s)
Infecciones por Helicobacter , Helicobacter pylori , Femenino , Humanos , Píloro , Melena , Hemorragia Gastrointestinal/etiología , Infecciones por Helicobacter/tratamiento farmacológico , Factores de RiesgoRESUMEN
AIM: The aim of the study was to evaluate the functional results, complications, the problems caused, and the outcomes of the transanal endorectal pull-through (TEPT) operation in Hirschsprung's disease. PATIENTS AND METHODS: The 22 patients who were operated for Hirschsprung's disease with TEPT between November 2003 and September 2006 were reviewed retrospectively. The patients were evaluated for age, gender, operational findings, duration of hospitalization and functional outcomes after the operation. RESULTS: A total of 22 patients, sixteen males (72.7 %) and 6 females (27.3 %) aged 23 days to 11 years (mean 19.3 +/- 6.9 months), were operated using TEPT over a 34-month period. The mean length of the resected aganglionic segment was 23 +/- 2.4 cm; the shortest segment was 7 cm and the longest 40 cm. The postoperative hospital stay was 3 - 10 days, oral feeding was started at 1 - 4 days, the first bowel movement was at 1 - 7 days and the number of daily movements for patients in whom the colostomy was closed was 2 - 5. The mean postoperative follow-up period was 18 +/- 2.4 months (1 - 33 months). Two patients (9 %) were hospitalized once for enterocolitis. One patient had a constipation problem that resolved with medical treatment. One patient needed colostomy for anastomosis leakage on the 5th postoperative day, followed by a redo pull-through using a posterior sagittal approach. None of the patients had a continence problem. No urethral damage was observed and there were no abscesses at the muscular cuff. We observed that mucosal dissection was more difficult in the rectal biopsy area. CONCLUSIONS: Although only recently accepted, TEPT has quickly found a place in clinical practice as it is based on an operational technique whose results are well identified and accepted and with which there is extensive experience. It seems that TEPT has the advantages of having no additional problems compared to the classical techniques with respect to complications and functional outcomes while providing better patient comfort and cosmetic outcomes. We conclude that TEPT may be preferred in appropriate cases and will evolve to become a more practical and effective technique.
Asunto(s)
Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Enfermedad de Hirschsprung/cirugía , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Canal Anal , Niño , Preescolar , Femenino , Estudios de Seguimiento , Motilidad Gastrointestinal/fisiología , Enfermedad de Hirschsprung/fisiopatología , Humanos , Lactante , Recién Nacido , Tiempo de Internación , Masculino , Estudios Retrospectivos , Factores de Tiempo , Resultado del TratamientoRESUMEN
To investigate the ability of some hematologic prognostic scores demonstrating inflammation in predicting sperm presence in testicular sperm extraction (TESE). We retrospectively investigated the medical data of 430 patients with the diagnosis of non-obstruc tive azoospermia (NOA) who had undergone TESE operation consecutively in our institution between the dates of January 2009 and February 2017. In all, 352 patients with the diagnosis of NOA, with bilaterally palpable vas deferens, who had undergone TESE for the first time, were included in the study. Patients with genetic anomalies, genital infection, history of surgery or vasectomy, chronic diseases, history of inflammatory, metabolic, rheumatologic, or malignant diseases, morbid obesity, with the diagnosis of clinical varicocele, or patients who had undergone TESE for the second time were excluded from the study. According to the results of TESE, the patients were divided into two groups as those with sperm retrieval and those without sperm retrieval. These groups were compared in terms of age, infertility duration, body mass index, hormone profile, hematologic parameters, neutrophil-to-lymphocyte ratio (NRL), monocyte-to-eosinophil ratio (MER), and platelet-to-lymphocyte ratio (PLR). The NLR and PLR levels were found to be significantly higher in patients without sperm retrieval at TESE compared to those with sperm retrieval. The logistic regression analysis showed NLR as an independent factor that showed the presence of spermatozoa at TESE (odds ratio: 4.786, %95 confidence interval: 2.667-8.589, p < 0.001). The area under the ROC curve (AUC) for the PLR was determined to be 0.574. As the calculated AUC value of the PLR was below 0.6, there was insufficient evidence determined at TESE to say that it was a reliable marker to indicate the presence of spermatozoa. The area of the MER value under the ROC curve was not statistically significant. It has been demonstrated that systemic inflammation negatively affects the probability of extracting spermatozoa in TESE and NLR is an independent factor indicating the presence of spermatozoa in TESE.
Asunto(s)
Azoospermia , Inflamación , Recuperación de la Esperma , Adulto , Azoospermia/etiología , Eosinófilos , Humanos , Inflamación/complicaciones , Recuento de Linfocitos , Masculino , Monocitos , Neutrófilos , Proyectos Piloto , Recuento de Plaquetas , Pronóstico , Estudios RetrospectivosRESUMEN
INTRODUCTION: Daytime lower urinary tract (LUT) conditions are identified as daytime incontinence problems for children in whom any cause of neuropathy and uropathy has been excluded. C-reactive protein (CRP) is a common marker of acute or chronic inflammation and infection. Increased CRP levels have been detected in the studies conducted on adults diagnosed with overactive bladders and interstitial cystitis. OBJECTIVE: This study aimed to investigate the role of serum CRP levels in girls suffering from daytime LUT conditions. STUDY DESIGN: Out of the 752 patients who presented to the outpatient clinics with lower urinary tract symptoms, 709 were excluded due to: being boys, having previous urinary tract surgery, an active urinary tract infection, a neurological anomaly, a urinary system anomaly, having rheumatic disease, any chronic disease, any febrile infection over the past week, a history of constipation, and enuresis nocturna. Forty-three girls with LUT conditions and aged 8-10 years were included in the study as the patient group. Forty girls who attended the urology outpatient clinic without LUT conditions, or active urinary tract infections and any chronic disease requiring follow-up constituted the control group. Under the control of the parents, all subjects were asked to fill out 3-day voiding diaries. The voiding diaries identified frequency, urgency, urgency urinary incontinence, and functional bladder capacity data. All subjects also completed a dysfunctional voiding scoring system (DVSS). The serum CRP levels of all subjects were measured. RESULTS: There was a significant difference in serum CRP levels and DVSS between the patient group and the control group (P = 0.001, P = 0.001). The mean serum CRP levels showed a significant increase when frequency and urgency scores were ≥8, the urge incontinence score was ≥2 and the DVS score DVSS was ≥14 in the voiding diaries of the patient group (Table). DISCUSSION: Lower urinary tract dysfunction is defined as a condition involving abnormalities of filling and/or emptying of the bladder. This frequently encountered problem constitutes >40% of all pediatric urology outpatient visits. The relationship between LUT conditions and serum CRP in both genders has been detected. However, it is believed that to our knowledge, this is the first study looking at the relationship between daytime LUTS and increased CRP levels in children. The most important limitations of the study were: having a small number of patients, and the sample consisting of only one gender and a specific age group. CONCLUSION: The serum CRP levels were significantly higher in the girls with daytime LUT conditions than in the control group. Also, the CRP levels significantly increased as DVSS, frequency, urgency, and urge incontinence scores increased.
Asunto(s)
Proteína C-Reactiva/metabolismo , Síntomas del Sistema Urinario Inferior/sangre , Encuestas y Cuestionarios , Vejiga Urinaria/fisiopatología , Micción/fisiología , Biomarcadores/sangre , Niño , Femenino , Estudios de Seguimiento , Humanos , Síntomas del Sistema Urinario Inferior/fisiopatología , Masculino , Estudios RetrospectivosRESUMEN
Perforation of the gastrointestinal tract in neonates is still associated with high mortality rates. Laparotomy is usually required to treat gastrointestinal perforation, however peritoneal drainage under local anesthesia has been also described as an alternative mode of treatment. In our institute, laparotomy was the first choice for the management of gastrointestinal perforation in neonates until 1999. Because of the high mortality rates in this group of patients, our policy has since changed to the use of primary peritoneal drainage instead. The aim of this study is to compare the effectiveness of primary peritoneal drainage (PPD) and primary laparotomy (PL) procedures in the management of gastrointestinal perforation due to necrotizing enterocolitis in neonates. Between 1994 - 1998, ten babies with intestinal perforation underwent PL, whereas fifteen newborns with similar findings were treated with PPD between 1999 and 2003. Eight (80 %) of the patients died in the PL group prior to 1999. In the PPD group 8 (53.3 %) of babies required no further treatment and were discharged without any complications. Four (26.7 %) patients in this group needed laparotomy later, and three (75 %) of them survived. In conclusion, we believe that PPD is more effective than PL for the management of perforated necrotizing enterocolitis in neonates. Laparotomy can be used in particularly unresponsive cases after primary peritoneal drainage.
Asunto(s)
Drenaje , Enterocolitis Necrotizante/cirugía , Perforación Intestinal/cirugía , Laparotomía , Peritoneo/cirugía , Enterocolitis Necrotizante/complicaciones , Femenino , Humanos , Ileostomía , Recién Nacido , Perforación Intestinal/etiología , MasculinoRESUMEN
This paper proposes a MEMS-based sensor array enabling multiple clot-time tests for plasma in one disposable microfluidic cartridge. The versatile LoC (Lab-on-Chip) platform technology is demonstrated here for real-time coagulation tests (activated Partial Thromboplastin Time (aPTT) and Prothrombin Time (PT)). The system has a reader unit and a disposable cartridge. The reader has no electrical connections to the cartridge. This enables simple and low-cost cartridge designs and avoids reliability problems associated with electrical connections. The cartridge consists of microfluidic channels and MEMS microcantilevers placed in each channel. The microcantilevers are made of electroplated nickel. They are actuated remotely using an external electro-coil and the read-out is also conducted remotely using a laser. The phase difference between the cantilever oscillation and the coil drive is monitored in real time. During coagulation, the viscosity of the blood plasma increases resulting in a change in the phase read-out. The proposed assay was tested on human and control plasma samples for PT and aPTT measurements. PT and aPTT measurements from control plasma samples are comparable with the manufacturer's datasheet and the commercial reference device. The measurement system has an overall 7.28% and 6.33% CV for PT and aPTT, respectively. For further implementation, the microfluidic channels of the cartridge were functionalized for PT and aPTT tests by drying specific reagents in each channel. Since simultaneous PT and aPTT measurements are needed in order to properly evaluate the coagulation system, one of the most prominent features of the proposed assay is enabling parallel measurement of different coagulation parameters. Additionally, the design of the cartridge and the read-out system as well as the obtained reproducible results with 10 µl of the plasma samples suggest an opportunity for a possible point-of-care application.
Asunto(s)
Técnicas Analíticas Microfluídicas/instrumentación , Tiempo de Tromboplastina Parcial/instrumentación , Tiempo de Protrombina/instrumentación , Diseño de Equipo , Humanos , Sistemas Microelectromecánicos/instrumentación , Tiempo de Tromboplastina Parcial/métodos , Tiempo de Protrombina/métodosRESUMEN
From the hexane extract of berries of Juniperus excelsa, one new and four known diterpenes were isolated besides a known sesquiterpene. The structures of the known diterpenes were identified as isopimaric, isocommunic, (-)ent-trans communic and sandracopimaric acids, along with the sesquiterpene 4a-hydroxycedrol and the new compound which was elucidated as 3 alpha-acetoxylabda-8(17),13(16),14-trien-19-oic acid (juniperexcelsic acid). Cytotoxic activity of the hexane extract was investigated against a panel of cell line and found highly active against LNCaP, KB-V (+VLB) and KB-V (-VLB) cell lines. Furthermore, the hexane and methanol extracts, and the new compound were found to be moderately active against Mycobacterium tuberculosis.
Asunto(s)
Antibacterianos/química , Diterpenos/química , Frutas/química , Juniperus/química , Extractos Vegetales/química , Animales , Antibacterianos/aislamiento & purificación , Antibacterianos/farmacología , Antineoplásicos/química , Antineoplásicos/aislamiento & purificación , Antineoplásicos/farmacología , Diterpenos/aislamiento & purificación , Diterpenos/farmacología , Hexanos/química , Humanos , Células KB/efectos de los fármacos , Leucemia P388/tratamiento farmacológico , Pruebas de Sensibilidad Microbiana , Mycobacterium tuberculosis/efectos de los fármacos , Resonancia Magnética Nuclear Biomolecular , Extractos Vegetales/aislamiento & purificación , Extractos Vegetales/farmacología , Espectrofotometría Infrarroja , Espectrofotometría Ultravioleta , Células Tumorales Cultivadas/efectos de los fármacosRESUMEN
OBJECTIVES: To identify the factors that influence the accuracy of acoustic rhinometry measurements recorded with commercially available equipment. STUDY DESIGN: A simple model was used which consisted of a metal pipe and cylindrical inserts. These inserts comprised various lengths, and aperture dimensions were comparable to, or smaller than, the nasal valve areas of both adults and children. METHODS: Accuracy of the acoustic rhinometry technique was evaluated by comparing the measured and actual cross-sectional areas. The results were discussed in terms of the calculated acoustic transmission, reflection, and attenuation coefficients of the pipe model variations. RESULTS: Reducing the inner diameter of the insert increased the degree of measurement error. As the length of the insert was increased, the measured cross-sectional area gradually decreased, approaching the actual area of the experimental passageway. For larger inserts, level of error was not highly dependent on passageway length compared with the narrower inserts. CONCLUSION: Our results show that both the cross-sectional area and passageway length of the narrow segment are the most significant factors that influence the accuracy in acoustic rhinometry measurements.
Asunto(s)
Acústica , Cavidad Nasal/anatomía & histología , Adulto , Niño , Humanos , Modelos Estructurales , Reproducibilidad de los ResultadosRESUMEN
Sepsis is a frequent cause of morbidity following extensive bowel resection. It has been suggested that the lymphoid tissues of the gut may be essential to normal humoral immunity. This study evaluates: (1) the effect of endotoxin on mortality following selective massive bowel resection and jejunoileal bypass; (2) cellular immunity by skin allograft rejection and bypass, and (3) T and B cell lymphocyte subpopulations is mesenteric lymph nodes, intestine and appendix. Endotoxin increased mortality in rats with more distal bowel resection but not following bypass. Skin allograft rejection was similar in each group. Peyer's patches, mesenteric lymph nodes and appendices were evaluated for T & B cell subpopulations. These tissues had a greater percentage of B cells (53% lymph nodes, 63% appendix) with IgM the predominant immunoglobulin. Cellular immunity was not a factor. Lymphoid tissues of the distal bowel and mesentery contain abundant B cells and IgM that may contribute to humoral immunity. Massive bowel resection may increase the risk of morbidity from gram negative sepsis and/or endotoxin presumably due to decreased humoral immunity.
Asunto(s)
Formación de Anticuerpos , Endotoxinas/efectos adversos , Intestinos/cirugía , Complicaciones Posoperatorias , Animales , Linfocitos B/inmunología , Inmunidad Celular , Ratas , Linfocitos T/inmunologíaRESUMEN
A 13-day-old boy presented with left scrotal tumor and coronary hypospadias. Left radical orchiectomy was performed. Histological diagnosis was embryonal-type paratesticular rhabdomyosarcoma. To the authors' knowledge, this is the first reported case of paratesticular rhabdomyosarcoma in a neonate in English-language literature. Also, the association of a testicular tumor with hypospadias has not been noted.
Asunto(s)
Rabdomiosarcoma/cirugía , Neoplasias Testiculares/cirugía , Humanos , Recién Nacido , Masculino , Rabdomiosarcoma/patología , Neoplasias Testiculares/patologíaRESUMEN
Primary hyperparathyroidism is a rare disease of childhood. The condition is even rarer in the neonatal and infant stages. The disease, with its main manifestation-hypercalcemia-often is fatal. The authors successfully treated a 2.5-month-old boy who had primary parathyroid hyperplasia. The patient had recurrent pneumonia and failure to thrive. Blood test results showed an abnormally high level of calcium, which was resistant to medical therapy. Further investigations showed high levels of parathyroid hormone. The patient underwent neck exploration, which showed hyperplasia of the all four parathyroid glands. Total parathyroidectomy was performed, with one gland being autotransplanted to the deltoid muscle. The patient had an immediate hypocalcemic period, followed by normocalcemia. In light of the present case and others in the Literature, the authors recommended total parathyroidectomy followed by autotransplantation of a gland to an accessible muscle.
Asunto(s)
Hiperparatiroidismo/diagnóstico , Insuficiencia de Crecimiento/etiología , Humanos , Hipercalcemia/etiología , Hiperparatiroidismo/complicaciones , Hiperparatiroidismo/cirugía , Lactante , Masculino , Paratiroidectomía , Neumonía/etiología , Trasplante Autólogo , Trasplante HeterotópicoRESUMEN
PURPOSE: There is still an argument concerning the correct management of pleural empyema. The aim of this study is to compare the effectiveness of closed-tube thoracostomy and open thoracotomy procedures in the management of empyema in children. METHODS: This is a prospective study of 30 patients with parapneumonic empyema who were managed randomly either by closed-tube thoracostomy or open thoracotomy procedures. The two procedures were compared based on the respective times to achieving normal body temperature and breath rates, duration of tube drainage, length of hospitalization, and complication rates. Both groups were also assessed by comparing tube drainage duration, pleural fluid pH, agent pathogen and glucose level. RESULTS: Average tube duration was 7.5 +/- 1.1 days and average hospital stay was 9.5 +/- 1.5 days in the open thoracotomy group. In the closed tube thoracostomy group tube, duration was 13.8 +/- 2.3 days and average hospital stay 15.4 +/- 2.3 days. In the open thoracotomy group 73.3% of the patients had achieved normal body temperature and 66.7 % had a normal breath rate within the first 48 hours. In the closed tube thoracostomy group these rates were 40% and 20%, respectively. In both groups, tube drainage duration was found to be longer in patients whose pleural fluid pH was < 7.2. CONCLUSION: The authors conclude that open thoracotomy is a safe, efficient, and easy method of treatment for pleural empyema in children. It was also observed that pleural fluid pH level is the most important prognostic criteria in pleural empyema.
Asunto(s)
Empiema Pleural/cirugía , Toracostomía/métodos , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Prospectivos , Succión , Resultado del TratamientoRESUMEN
TAR syndrome is manifested by the presence of hypomegakaryocytic thrombocytopenia and the bilateral absence of radii. An 8-day-old female newborn was referred to our clinic with diagnosis of TAR syndrome and symptoms of intestinal obstruction. On perineal examination she also had anal atresia with rectovestibular fistula. Because of persistent bile-stained drainage from the nasogastric tube, an upper gastrointestinal contrast study was performed and partial duodenal obstruction was detected. At operation, an annular pancreas was encountered and side-to-side duodenoduodenostomy was performed. A small number of gastrointestinal system malformations associated with TAR syndrome has been reported. Our case is unique; the association with annular pancreas and anal atresia with rectovestibular fistula has never been previously reported.
Asunto(s)
Ano Imperforado/patología , Páncreas/anomalías , Anomalías Múltiples/patología , Ano Imperforado/complicaciones , Ano Imperforado/cirugía , Obstrucción Duodenal/complicaciones , Femenino , Cardiopatías Congénitas/complicaciones , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Pulmón/anomalías , Pulmón/diagnóstico por imagen , Radiografía , Síndrome , Tórax/anomalías , Pulgar/anomalíasRESUMEN
The etiology of sirenomelia sequence is still obscure. The role of maternal diabetes and a vascular steal phenomenon have been discussed [Gürakan et al. (1996) Turk J Pediatr 38:393-397]. Discordant monozygotic twin sirenomelia has been commonly reported but only rarely in dizygotic twins. The family of the presented twins had a high risk of diabetes mellitus. One of the twins has type 1 sirenomelia and the other had only an imperforate anus.
Asunto(s)
Ano Imperforado/patología , Enfermedades en Gemelos , Ectromelia/patología , Gemelos Dicigóticos , Humanos , Recién Nacido , MasculinoRESUMEN
Crimean-Congo Hemorrhagic fever (CCHF) is a potentially fatal viral infection with reported case fatality rates of 5-30%. Humans become infected through tick bites, by contact with a patient with CCHF during the acute phase of infection, or by contact with blood or tissues from viraemic livestock. In this first report in the literature, we present the characteristics of three pregnant women with CCHF infection and the outcome of their babies. Transmission of the CCHF infection could be either intrauterine or perinatal. In endemic regions, CCHF infection should be considered in the differential diagnosis of HELLP syndrome (haemolytic anaemia, elevated liver enzymes, low platelet count), and obstetricians should be familiar with the characteristics of CCHF infection. In the aetiology of necrotising enterocolitis, CCHF should be considered.