Liver transplantation for congenital hepatic fibrosis-induced liver function failure: A case report and literature review / 吉林大学学报(医学版)

Objective: To analyze the clinical characteristics, the typical pathological features and treatment methods of the patients with congenital hepatic fibrosis (CHF), and to improve the prognosis of the patients. Methods: The clinical data of a patient with CHF underwent liver transplantation for liver function failure were collected, and the relevant literatures were reviewed; the classification, clinical characteristics, diagnosis and treatment of CHF were analyzed. Results: The patient was a 39-year-old man and prensented with upper gastrointestinal bleeding. The results of gastroscope examination showed the severe varicose veins of the esophagus, which was marked by portal hypertension. The imaging examination after admission showed liver cirrhosis, splenomegaly and right renal cyst; the patient had mild liver function change, poor coagulation function, and liver function failure. After medical treatment, the condition was not improved, and the patient underwent allogeneic orthotopic liver transplantation. The postoperative liver pathology indicated CHF; all the laboratory indicators were normal after 1 month of transplantation. The patient recovered better 1 year after operation. Conclusion: CHF is characterized by liver fibrosis, portal hypertension and renal cystic lesions. Liver biopsy is the gold standard for its diagnosis, clinical treatment is mainly for the complications, and liver transplantation is the fundamental treatment.

A Case of Binder Syndrome: Rhinoplasty Surgeon's Perspective / 대한이비인후과학회지

Binder syndrome, also called the congenital flat nose syndrome, is a rare congenital malformation with a flat facial profile, intermaxillary hypoplasia and malocclusion. Rhinoplasty plays an important part in the multidisciplinary surgical protocol for this syndrome, for which weak nasal framework and soft tissue underdevelopment have been considered a great challenge. We present a case of Binder syndrome of a 27-year-old male. The nose was reconstructed with a caudal septum replacement graft and bilateral extended spreader grafts using costal cartilage.

Epidemiological characteristics of Zika virus disease / 中华流行病学杂志

Zika virus disease is an emerging mosquito-borne acute infectious disease caused by Zika virus,so far there have been no available vaccine or specific treatment.Currently,the outbreaks of Zika virus disease mainly occurs in the Americas,but the regional distribution of the disease is in rapid expansion,34 countries and territories have reported autochthonous transmission of the virus.The illness is usually mild with very rarely death,but increased reports of birth defects and neurologic disorders in the areas affected by Zika virus has caused extensive concern worldwide.In China,the competent vectors for Zika virus are widely distributed,imported viraemic cases may become a source of local transmission of the virus.However,Zika virus disease is preventable,the spread of virus could be stopped when the effective prevention measures are taken.This paper summarizes the retrieval results from Medline database and the information from the reports of the governments of countries affected or health organizations about the epidemiological characteristics of Zika virus disease.

Primer caso de tratamiento ex utero intraparto realizado por vía vaginal en un feto con síndrome de obstrucción congénita de la vía aérea superior / The first case of exutero intrapartum treatment performed using the vaginal route in a fetus with congenital high airway obstruction syndrome

El síndrome de obstrucción congénita de la vía aérea superior (CHAOS), es una condición infrecuente que causa asfixia o muerte perinatal inmediata, de no mediar una estrategia terapéutica que permita permeabilizar la vía aérea del paciente durante el nacimiento. El diagnóstico prenatal, es fundamental para delinear estrategias de tratamiento perinatal con el fin de minimizar la morbimortalidad de niños con anomalías congénitas. El tratamiento ex-útero intraparto (EXIT) es el procedimiento de elección. Clásicamente se realiza mediante una cesárea programada, manteniendo el soporte fetal a través de la circulación útero-placentaria. Se requiere un equipo altamente calificado y un trabajo coordinado para concretar el procedimiento en estas condiciones. Objetivo: El objetivo es reportar un caso de Síndrome de CHAOS, en el que se realizó un procedimiento EXIT en un niño nacido por parto vaginal, con la participación de un equipo multidisciplinario de profesionales de dos Instituciones Públicas de la Ciudad de Buenos Aires, en el marco de un Programa Conjunto de Diagnóstico y Tratamiento Fetal (AU)

Congenital high airway obstruction syndrome (CHAOS) is a rare entity causing perinatal asphyxia or immediate death if no therapeutic strategy is undertaken to correct airway patency at birth. Prenatal diagnosis is essential to plan perinatal strategies to decrease morbidity and mortality in children with congenital anomalies. The exutero intrapartum treatment (EXIT) is the procedure of choice. Classically, a programmed cesarean section is performed while the fetus is maintained on uteroplacental circulation. A highly trained team is required in the coordinated effort to perform the procedure. Aim: The aim of this study was to report on a case of CHAOS managed with an EXIT procedure in a child born through vaginal delivery performed by a multidisciplinary team of professionals belonging to two public institutions of the city of Buenos Aires in the framework of the Joint Program of Fetal Diagnosis and Treatment (AU)

Epidermolytic Hyperkeratosis – A rare case report.

A 20 year old boy presented to the dermatology department for treatment of a congenital icthyosis with a history of generalized erythroderma and trauma related blistering since birth. At the time of presentation he was noted to have red hyperkeratotic plaques all over the body. Lesions were corrugated over the joint flexures, elbows, knees, and dorsal of hands. In the subsequent months after birth erythema and blistering improved but patient developed hyperkeratotic scaling that was especially prominent over the joint flexures neck, hands and feet. Treatment options include urea or alpha-hydroxy acid containing creams as well as topical and systemic retinoids.

Risk factors of birth defects in China:a Meta analysis / 重庆医学

Objective To explore the main risk factors related to birth defects to provide the scientific basis for making the best prevention policy and implementing the effective interventions .Methods Totally 21 domestic research articles on the risk fac‐tors of birth defects were comprehensively analyzed by the meta analysis method ,including accumulated 6 112 patients and 15 741 control cases .The articles were screened preliminarily according to inclusion and exclusion standard ,and then the fixed and random effects model were selected according to the homogeneity test .The merged results were performed the chi‐square test .Results The main merged results OR values of single‐factor‐analysis were as follows:the family history of birth defects 36 .22 ,early pregnant in‐fectious disease 5 .62 ,early pregnancy exposure to chemicals 4 .19 ,paternal smoking 3 .89 ,contact sedatives during pregnancy 3 .19 , pregnancy complication 2 .94 ,high protein food during pregnancy 0 .37 ;the main merged results OR values of multiple‐factor‐analy‐sis were as follows :early pregnancy infectious disease 7 .65 ,poor prenatal mental state 5 .44 ,early pregnancy fever 4 .70 ,early preg‐nancy exposure to toxic chemical 3 .90 ,history of abortion 3 .59 ,supplement of multivitamin during pregnancy 0 .45 .Conclusion The main risk factors of birth defects in our country are family history of birth defects ,early pregnancy infectious disease ,early pregnancy exposure to chemicals ,paternal smoking and pregnancy complication;the protective factors are eating more high protein food during pregnancy ,supplement of multivitamin during pregnancy and taking folic acid during pregnancy .

Clinical observation of total hip arthroplasty in the treatment of congenital dislocation of the hip and femoral head ischemic necrosis / 中国基层医药

Objective To explore the effects of total hip arthroplasty in the treatment of congenital disloca-tion of the hip and femoral head aseptic necrosis.Methods 16 cases of congenital dislocation of the hip and femoral head ischemic necrosis patients,10 cases of them were bilateral hip lesion,6 cases with unilateral lesions,total hip replacement in 26 lesions( THA) treatment,Follow up was used to observe the effect of the operation.Results All patients had succeeded in the operation.There were no postoperative fractures and vascular,nerve damage,muscle. Patients were discharged after recovery of joint function reached the expected target, walking was not restricted, restoration of the basic daily life.Limb length extension of 3-5cm,the average 3.4cm.Harris score by preoperative average 36.2 points back to 90.1 points after operation.Conclusion For the patients of congenital dislocation of hip joint combined with femoral head ischemic necrosis,total hip replacement arthroplasty were a good method for them.

Prevalence of early neurodevelopmental disabilities in Mexico: a systematic review / Prevalencia de neuro-discapacidades tempranas en México: una revisión sistemática

OBJECTIVE: Early neurodevelopment disabilities (END) such as cerebral palsy (CP), deafness, blindness, epilepsy, and mental retardation (MR) are very important public health concerns. Although no strong data on END can be obtained in Mexico, the few papers concerning END epidemiology deserve systematic and critical review. Thus, this was the objective of the present paper. METHOD: We performed a systematic review of papers published reporting on the prevalence of END in Mexico. We performed a search in several medical data bases such as PubMed, Artemisa, ImBioMed, and LiLaCS. Each paper was downloaded, read and discussed. We only selected papers published between 1999 and 2008. RESULTS: No data on CP and epilepsy prevalence in infants have been found. Data on deafness prevalence report hearing loss in 0.65/1,000 healthy newborns, and in 2.6/100 in high-risk very premature infants. With regard to blindness, prevalence of retinopathy of premature infants in any stage was reported at ca 10.61 and 22.2/100 in high-risk premature infants. Congenital hypothyroidism (CH) prevalence in infants was found in 4.2/10,000 live newborns after a national universal screening survey. CONCLUSION: No universal data regarding the prevalence of END in Mexico have been investigated, with the exception of CH. Mexico needs more research to determine epidemiologic data focused on designing actions to prevent, treat, and rehabilitate END.

OBJETIVO: Las neuro-discapacidades tempranas (NDT) como la parálisis cerebral (PC), hipoacusia, debilidad visual, epilepsia y retardo mental (RM) son problemas muy importantes de salud pública. Aunque no existen suficientes datos sobre la prevalencia de NDT en México, el objetivo de este trabajo es hacer comentarios sistemáticos y críticos sobre los ya estudios existentes. MÉTODO: Realizamos una búsqueda sistemática de artículos publicados sobre NDT en México. La búsqueda comprendió las siguientes bases de publicaciones: PubMed, Artemisa, ImBioMed y LiLaCS. Cada artículo fue descargado, leído cuidadosamente y comentado. Se seleccionaron aquellos trabajos publicados entre 1999-2008. RESULTADOS: No se han publicado datos sobre la prevalencia de PC y epilepsia en niños mexicanos. La prevalencia de hipoacusia se ha reportado entre 0.65/1,000 en recién nacidos sanos y 2.6/100 en recién nacidos de alto riesgo. La prevalencia de retinopatía de la prematurez como indicador de debilidad visual ha sido reportada entre 10.61-22.2/100 recién nacidos de alto riesgo. La prevalencia de hipotiroidismo congénito (HC) como indicador de RM ha sido encontrada en 4.2/10,000 recién nacidos en el estudio nacional de tamizaje. CONCLUSIÓN: No hay datos sobre la prevalencia de NDT con la excepción del HC en México. Se necesita más investigació.

Clinical features of myopathy with tubular aggregates:6 cases / 中华神经科杂志

Objectives To report clinical,electrophysiological and pathological features of myopathy with tubular aggregates.Methods The onset of the disease was between 5-50 years old in the 6 sporadic male cases.Skeletal muscle biopsy was performed for all cases.Specimens were examined histochemically,enzymhistochemically and electromicroscopically.Results Case 1 and 2 presented with limb girdle myasthenic syndrome.The case 1 developed exercise-induced cramps in the late stage.Case 3 complained about persistent weakness and Dopa-responsive dystonia.Case 4 and 5 were characterized by periodic paralysis.Case 6 showed exercise-induced cramps.Serum potassium was normal in all patients. Slight elevation of serum creatine kinase appeared in 3 cases.Electromyography showed neurogenic pattern in case 1 and 6,myogenic changes in case 4 and 5,and no abnormality in other 2 cases.Marked decrement of active potential amplitude was noted with low frequency repetitive nerve stimuli in case 1 and 2.Four percent to forty percent of muscle fibers showed focal material accumulation in the fibers,which involved mainly type 2 fibers in all cases.The material was stained bright red material with modified gomori trichrome,intensive staining with nicotinamide adenine dinucleotide-tetrazolium reductase,lack activity of succinate dehydrogenase and ATPase.Electron microscopy confirmed bundles of parallel micro-tubular structure in the muscle fiber.Conclusions Myopathy with tubular aggregates has various clinical subtypes and electromyographic pattern.Dystonia or other systemic symptoms could be noted in this disease.The limb girdle myasthenic syndrome can also be accompanied with exercise-induced cramps.

Nevo piloso gigante congénito / Giant congential hairy nevus

El nevo piloso gigante congénito, es una patología rara con una incidencia de 1 por cada 30.000 a 100.000 individuos. Se presenta con un tamaño mayor a los 20cm. Puede abarcar entre el 15 y el 35del cuerpo ocupando el tronco, un miembro, etc. Se presenta pigmentado, por lo general de forma dispareja, variando entre el castaño claro y el negro intenso, de consistencia semejante al caparazón de la tortuga y cubierto de pelos largos y gruesos. Comunicamos el caso de 3 niños que al nacimiento mostraron un nevo piloso gigante y múltiples nevos de menor tamaño. Esta Patología requiere extirpación quirúrgica agresiva por motivo estético y reducción del riesgo de degeneración hacia melanoma. En todos estos pacientes debe considerarse el diagnóstico de melanosis neurocutánea por lo que es preciso un seguimiento clínico y de neuroimagen, misma que no tiene tratamiento curativo.

A giant congenital hairy nevus is a rare pathology with an incidence of 1 for every 30,000 to 100,000 person. It is characterized for having a size greater than 20 cm, the color varies from brown to black, and surface texture may vary from smooth to warty and covered by long thick hairs. We have clinical cases of three children that when born had gigantic hairy nevus and multiple nevus of smaller size. This pathology requires surgical removal due to esthetics and the decrease risk of getting melanoma. In these patients we should consider a possible diagnosis of neurocutaneous melanosis a reason why image studies should be done.

A Case of Speckled Lentiginous Nevus Showing Histopathologic Features of Congenital Melanocytic Nevus / 대한피부과학회지

Speckled lentiginous nevus is characterized by numerous, small, darkly-pigmented speckles on the background of tanned hyperpigmentation. The tan macule or patch of speckled lentiginous nevus shows the histologic features of lentigo simplex. The speckled areas are characterized by various types of nevi including junctional, compound or dermal nevus. However, since speckled lentiginous nevus may present at birth and show the histologic features of congenital melanocytic nevus (CMN), some have speculated that it is a subtype of CMN. We present a case of speckled lentiginous nevus which occurred at birth and showed histologic features of CMN, thus supporting the notion that speckled lentiginous nevus is a subtype of CMN.

Surgical Treatment of Congential Scoliosis-Validity of Pedicle Screws / 대한정형외과학회잡지

Surgical treatment of congenital scoliosis is often frustrating due to its severity and rigidity. Many surgical methods were provided for these complex deformities and some instruments were used to achieve better correction. However, no surgical treatment was satisfactory to correct the deformities. Recently, pedicle screw fixation, enabling a powerful grip of individual vertebral segment, is becoming a promising method to enhance correction of these tenacious deformities. This study was to compare the correction, loss of correction and complications of the various surgical methods employed for congenital scoliosis in Seoul National University Hospital and to verify the advantages of pedicle screw fixation. Ninety-two congenital scoliosis subjected to surgery and followed up for more than 2 years(range 2-9 years) were analysed. Surgical methods were; anterior uninstrumented fusion, 5; posterior fusion, 50(14 without instrument, 15 with hooks, 21 with screws); combined anterior and posterior fusion, 37(7 without instrument, 11 with posterior hooks, 10 with posterior screws, 9 with anterior VDS and posterior screws). Mean preoperative magnitude of index curve was 58° with no significant difference between the groups except for the anterior VDS and posterior screw group which had a mean magnitude of 93°. Mean flexibility of index curve was 18.7% with no significant difference between groups. The correction of index curves were; anterior uninstrumented fusion, 23%; posterior uninstrumented fusion, 28%; posterior hook, 31%; posterior screw, 46%; combined anterior and posterior uninstrumented, 37%; anterior fusion and posterior hook, 30%; anterior fusion and posterior screw, 47%; anterior VDS and posterior screw, 48%. The correction of pedicle screws were significantly better(p < 0.01) with significantly smaller loss of correction(p < 0.01). Nonunion occurred in 4, 1 in posterior uninstrumented fusion, 2 in posterior hooks and 1 in posterior pedicle screws with concomitant instrument failures. However, there were no neurologic or visceral complications related to screw placement. Pedicle screw fixation offers an enhances correction of congenital scoliosis with low complication rate, and when combined with an anterior procedure, enables control of the most severe and rigid curves.

Intraocular pressure and axial length in children

The intraocular pressure and the anteroposterior length of the eye are of great clinical importance for the diagnosis and management, before and after surgery, of congenital glaucoma. It is well-known that normal intraocular pressure in children is different from the normal levels in adults. We performed measurements of intraocular pressure and axial length in 141 children who had been admitted for eye problems other than glaucoma. The intraocular pressures were measured with the Perkins hand-held applanation tonometer at the beginning of general anesthesia. Simultaneously, A-scan ultra-sound measurements of the axial lengths of the eyes were made. In 10 children under the age of two years, the intraocular pressure was 11.85 +/- 1.35 mmHg. In 79 children from two to seven years, the intraocular pressure was 12.80 +/- 1.73 mmHg. In 52 children from seven to 15 years, the intraocular pressure was 13.31 +/- 1.79 mmHg. The axial lengths of the eyes in children under the age of two years, from two to seven years, and from seven to 15 years, were 21.31 +/- 0.97 mm, 22.04 +/- 0.92 mm, and 23.22 +/- 1.00 mm, respectively. These results were considered to be guidelines for measuring intraocular pressure and axial length in children suspected of having congenital glaucoma. The differences of intraocular pressures stated by other authors are due to early measurement of the intraocular pressure at the beginning of general anesthesia.

Intrauterine Depressed Skull Fracture of the Newborn associated with Skull Capillary Hemangioma

Authors experienced one case of intrauterine depressed skull fracture which associated with skull capillary hemangioma. In reviewing literatures, there are two types of intrauterine skull depression, traumatic and spontaneous. Pressure of the fetal head against maternal bony structures accounts for most of the so-called spontaneous type. Authors case was spontaneous type and associated with "fetal factor", congenital capillary hemangioma of the skull.

Intrauterine Depressed Skull Fracture of the Newborn associated with Skull Capillary Hemangioma

Authors experienced one case of intrauterine depressed skull fracture which associated with skull capillary hemangioma. In reviewing literatures, there are two types of intrauterine skull depression, traumatic and spontaneous. Pressure of the fetal head against maternal bony structures accounts for most of the so-called spontaneous type. Authors case was spontaneous type and associated with "fetal factor", congenital capillary hemangioma of the skull.

Congenital Pseudarthrosisof the Tibia: Treated with Free Vascularized Fibular Graft / 대한정형외과학회잡지

It is notoriously difficult to obtain a sound bony union of congenital paeudarthrosis of tbe tibia with conventional methods. This paper is the results of using the free vascularized fibular graft for congenital pseudarthorsis of the tibia in 7 patients since 1978 in this hospital, which is the first attempt in Korea. During the follow-up periods from 9 months to 32 months, 5/7 patients(71%) had good or excellent bony union, 2 patients had bone resorption at tbe distal site of grafted bone and required a second supplementary cancellous bone graft with electrode insertion. So it is thought that the free vascularized fibular graft is one of good methods of treatment for congenital pseudarthrosis of the tibia.