Kidney transplantation from donors with Marfan syndrome: report of 2 cases and literature review / 器官移植

Objective To investigate the feasibility and clinical experience of kidney transplantation from donors with Marfan syndrome (MFS). Methods Clinical data of 2 recipients undergoing kidney transplantation from the same MFS patient were retrospectively analyzed and literature review of 2 cases was conducted. Characteristics and clinical diagnosis and treatment of kidney transplantation from MFS patients were summarized. Results The Remuzzi scores of the left and right donor kidneys of the MFS patient during time-zero biopsy were 1 and 2. No significant difference was observed in the renal arteriole wall compared with other donors of brain death and cardiac death. Two recipients who received kidney transplantation from the MFS patient suffered from postoperative delayed graft function. After short-term hemodialysis, the graft function of the recipients received the left and right kidney began to gradually recover at postoperative 10 d and 20 d. After discharge, serum creatinine level of the recipient received the left kidney was ranged from 80 to 90 μmol/L, whereas that of the recipient received the right kidney kept declining, and the lowest serum creatinine level was 232 μmol/L before the submission date (at postoperative 43 d). Through literature review, two cases successfully undergoing kidney transplantation from the same MFS donor were reported. Both two recipients experienced delayed graft function, and then renal function was restored to normal. Until the publication date, 1 recipient has survived for 6 years, and the other recipient died of de novo cerebrovascular disease at postoperative 2 years. Conclusions MFS patients may serve as an acceptable source of kidney donors. However, the willingness and general conditions of the recipients should be carefully evaluated before kidney transplantation. Intraoperatively, potential risk of tear of renal arterial media should be properly treated. Extensive attention should be paid to the incidence of postoperative complications.

Intra-abdominal desmoid tumors in familial adenomatous polyposis: How much do clinical and surgical variables interfere with their development?

Abstract Objective: Familial Adenomatous Polyposis is a complex hereditary disease that exposes the carrier to a great risk of Colorectal Cancer (CRC). After prophylactic surgery, intra-abdominal desmoid tumors are known to be one the most important cause of death. Therefore, recognition of increased-risk patients and modification of operative strategy may be crucial. Aim: The objective of this study was to estimate the desmoid tumor risk in relation to various surgical and clinical variables. Methods: Patients who had undergone polyposis since 1958 were included in the study. After exclusion criteria were met, those who had developed desmoid tumors were selected to undergo further evaluation. Results: The study revealed that the risk of developing desmoid tumors was associated with various factors such as sex ratio, colectomy, and reoperations. On the other hand, the type of surgery, family history, and surgical approach did not affect the risk of developing desmoid tumors. The data collected from 146 polyposis patients revealed that 16% had desmoid polyps. The sex ratio was 7:1, and the median age at colectomy was 28.6 years. Family history, multiple abdominal operations, and reoperations were some of the characteristics that were common in desmoid patients. Conclusion: Recognition of clinical (female sex) and surgical (timing of surgery and previous reoperations) data as unfavorable variables associated with greater risk may be useful during the decision-making process.

Factores hereditarios y síndromes de predisposición genética relacionados con sarcomas de partes blandas / Hereditary factors and syndromes of genetic predisposition related to sarcomas of soft parts

Los sarcomas de partes blandas son tumores malignos que se originan en el tejido conectivo, a partir del mesénquima embrionario. Teniendo en cuenta la existencia de nuevos y constantes cambios en la naturaleza de estos tumores, se realizó una revisión de las publicaciones más recientes para profundizar en las alteraciones genéticas, los síndromes de predisposición y su relación con los sarcomas. Se pudo concluir que aún siguen siendo muy pocos los registros que describen la identificación de dichos síndromes como principal eslabón en el desarrollo de los sarcomas.

The sarcomas of soft parts are malignancies that originate in the connective tissue, starting from the embryonic mesenchyme. Taking into account the existence of new and constant changes in the nature of these tumors, a review of the most recent publications was carried out to deepen in the genetic disorders, the predisposing syndromes and its relationship with sarcomas. It was concluded that the records that describe the identification of these syndromes are still very few as main link in the development of sarcomas.

Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome / 中国医学科学院学报

Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Results A total of 186 cases were enrolled,including 110 males and 76 females,with the mean age of(28±16)years. The data of gene mutation and specific clinical manifestations were available in 151 and 94 patients,respectively. The main clinical manifestations of KS included poikiloderma,occurrence of blister in childhood,and photosensitivity,and the secondary clinical manifestations included oral inflammation,palmoplantar keratoderma,webbing/pseudoainhum,dysphagia,urethral stricture and so on.Oral inflammation(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(χ2=11.292,P=0.001)and anal stenosis(χ2=4.014,P=0.045)were significantly correlated with sex,with higher incidence in males.Eighty different mutations were found in 151 patients,and the most common gene mutation was c.676C>T.Forty-one tumors occurred in 27 patients,among which squamous cell carcinoma accounted for 92.7%. The gene mutation site had no significant correlation with squamous cell carcinoma or patient country. Conclusions The c.676C>T in FERMT1 gene is the most common mutation in KS.The patients are prone to squamous cell carcinoma and mainly attacked at the exposure sites(hand and mouth).

Identificación por catálogo y detección molecular de bovinos Holstein portadores de braquiespina en Uruguay / Identification through sire catalogues analysis and molecular detection of brachyspina carriers in Uruguayan Holstein

Resumen El síndrome de braquiespina es una condición genética de la raza Holstein, detectada en el año 2006. Es causado por una deleción de 3.3 Kb en el gen FANCI localizado en el cromosoma bovino 21. La mutación fue identificada en poblaciones de Holstein de Europa, América del Norte y Asia. Dada la importancia económica del defecto y su amplia distribución mundial, el objetivo de este trabajo ha sido la identificación de animales portadores en el núcleo de selección genética de la raza en Uruguay y el diagnóstico molecular del alelo deletéreo en animales del rodeo nacional. En el presente estudio se analizaron 2598 registros de toros Holstein del catálogo de padres del sistema de evaluación genética lechera, los registros de toros pertenecientes a los catálogos de semen Holstein disponible para Uruguay de los años 2014 al 2018; y 71 vacas pertenecientes al rodeo general. Se encontraron 28 toros portadores de braquiespina de un total de 377 toros con información genética del catálogo de padres y cuatro vacas portadoras de un total de 71 genotipificadas en nuestro laboratorio. Se demostró una disminución en el ingreso de semen de animales portadores al país entre los años 2014 y 2018. La frecuencia significativa de animales portadores en Uruguay evidencia la necesidad de implementar estrategias que permitan eliminar gradualmente el defecto de la población.

Abstract Brachyspina syndrome is a hereditary recessive disease of recent identification in the Holstein breed. It is caused by a deletion of 3.3Kb in the FANCI gene located in the bovine chromosome 21. The mutation was identified in Holstein populations of Europe, North America and Asia. Given the economic importance of the defect and its wide distribution, the objective of this work was the identification of carrier animals in the genetic selection nucleus of the breed in Uruguay and the molecular verification of the deleterious allele in animals of the national herd. In the present study, 2598 records of Holstein bulls were analyzed from the list of parents of the dairy genetic evaluation system, records of bulls belonging to the Holstein semen catalogs available for Uruguay from 2014 to 2018; and 71 cows belonging to the general herd. Twenty-eight brachyspina carrier bulls were found of a total of 377 bulls with genetic information from the list of parents and four carrier cows of a total of 71 genotyped in our laboratory. A decrease in the income of semen from carrier animals to the country between 2014 and 2018 was demonstrated. The significant frequency of carrier animals in Uruguay evidences the need to implement strategies to gradually eliminate the population defect.

White sponge nevus: a case report and literature review / 口腔疾病防治

Objective@#To explore the etiology, clinical manifestation, diagnosis and treatment of white spongy spot nevus, so as to provide reference for clinical diagnosis and treatment. @*Methods @#The clinical data and related literature of a case of white cavernous nevus in oral cavity were retrospectively analyzed.@*Results @#White spongy nevus is a rare autosomal dominant hereditary disease with a family history. The mutations of keratin gene K4 and K13 in patients with white spongy nevus are considered to be the main causes. The disease usually starts in children and adolescents and tends to be stable in adulthood. It is characterized by extensive white water-wave folds on the mucosa, soft texture, and affects the bilateral buccal mucosa. Pathological examination usually shows excessive keratosis of epithelial cells, edema and vacuolation in spinous cells, while basal cells are generally normal. In clinic, it should be differentiated from oral leukoplakia, oral lichen planus and oral candidiasis. At present, there is no specific treatment method. Retinoic acid is often applied locally and gargle is used to keep oral hygiene and cleanliness. Patients can not be treated without conscious symptoms. The prognosis of the disease is good and there is no tendency of malignancy.@*Conclusion @#White spongy nevus is very rare and easily missed by clinicians. Diagnosis mainly depends on medical history, clinical manifestations and pathological examination. Future research directions should be devoted to finding more effective treatment.

Abiotrofia cerebelar em um gato: relato de caso / Cerebellar abiotrophy in a feline: case report

Um caso de abiotrofia cerebelar em um gato com 45 dias de idade foi diagnosticado no Laboratório de Patologia Animal, Hospital Veterinário da Universidade Federal de Campina Grande. O animal apresentava, havia 15 dias, apatia, anorexia, desidratação, ataxia, hipermetria, espasticidade dos membros torácicos e pélvicos, tremores de intenção, nistagmo, opistótono, déficit proprioceptivo e ausência de resposta de ameaça. Clinicamente, havia a suspeita de hipoplasia cerebelar, e, devido ao prognóstico desfavorável, o animal foi eutanasiado. Na necropsia, não foram observadas alterações macroscópicas. Microscopicamente, as lesões estavam restritas ao cerebelo e caracterizavam-se por alterações neurodegenerativas e necróticas, com desaparecimento segmentar dos neurônios de Purkinje. Nessas áreas, também se verificaram espaços em branco, denominado aspecto de cesto vazio, resultantes da perda dos neurônios de Purkinje, além de raros esferoides axonais e proliferação dos astrócitos de Bergmann. Em algumas áreas, a camada granular estava hipocelular e havia moderada gliose multifocal na camada molecular. O diagnóstico de abiotrofia cerebelar foi realizado com base nos dados epidemiológicos, clínicos e, principalmente, pelas alterações histopatológicas dos neurônios de Purkinje características da doença.(AU)

The aim of this report was to describe a case of cerebellar abiotrophy in cat with 45-year-old diagnosed at the Animal Pathology Laboratory, Veterinary Hospital of the Federal University of Campina Grande. The animal had presented 15-day apathy, anorexia, dehydration and neurological signs, characterized by ataxia, hypermetria, spasticity of fore and hindlimbs, intention tremor, nystagmus, opisthotonos, proprioceptive deficits, and absence of threat response. Clinically, cerebellar hypoplasia was suspected and the animal was euthanized due to poor prognosis. During necropsy, gross lesions were not observed. Microscopically the lesions were restricted to the cerebellum and were characterized by neurodegenerative and necrotic damage with segmental disappearance of the Purkinje cells. In these areas, there were also empty spaces, called the empty basket aspect, resulting from the loss of Purkinje cells, as well as rare axonal spheroids and proliferation of Bergmann's astrocytes. In some areas, the granular layer was hypocellular and there was moderate multifocal gliosis in the molecular layer. The diagnosis of cerebellar abiotrophy was based on epidemiological, clinical and mainly on histopathological changes in neurons of Purkinje disease characteristics.(AU)

Retinosis pigmentaria en un adolescente / Retinitis pigmentosa in an adolescent

ResumenINTRODUCCIÓN: La retinosis pigmentaria es la forma hereditaria y crónica más común de distrofia retiniana. Esta condición se caracteriza inicialmente por la afectación progresiva de los fotorreceptores y, posteriormente, de otras capas de la retina. En la exploración ocular esta situación se traduce como palidez del disco óptico, disminución vascular y depósitos de pigmento en la retina.CASO CLÍNICO: Se presenta el caso de un paciente masculino de 15 años de edad con una historia de 6 meses de evolución caracterizada por ceguera nocturna y disminución de la visión lateral temporal superior en ambos ojos.CONCLUSIONES: Este tipo de padecimiento ocular distrófico, genético y progresivo comienza durante la adolescencia y condiciona una discapacidad visual.

AbstractBACKGROUND: Retinitis pigmentosa is the most common chronic and inherited condition of retinal dystrophy. The progressive involvement of retinal photoreceptors and other layers characterize this condition. This situation results in optic disc pallor and retinal pigment deposition vascular attenuation.CASE REPORT: We present the case of a 15-year-old male with a history of 6 months evolution characterized by night blindness and bilateral impairment of superior temporal vision.CONCLUSIONS: This type of dystrophy is a genetic and progressive eye condition that begins during adolescence and produces visual impairment.

Glicogenoses: uma revisão geral / Glycogenoses: an overeview

Compreender o metabolismo dos diferentes tipos de glicogênio no organismo humano torna-se de suma importância, pois além da sua relevância no fornecimento energético e no controle da glicemia, o glicogênio pode estar relacionado com diversos tipos de doenças que comprometem a saúde do ser humano, especialmente pela deficiência em enzimas de vias anabólicas e catabólicas. Em um contexto de avanços no desenvolvimento de pesquisas relacionadas às áreas da saúde, uma série de estudos busca entender fisiologicamente os caminhos do glicogênio em situações de exercício, repouso, jejum, dentre outras, além de analisar os mais variados transtornos decorrentes da deficiência no metabolismo desse polissacarídeo. Um exemplo são as glicogenoses, doenças hereditárias, em sua maioria de caráter recessivo, relacionadas com o armazenamento de glicogênio. Dentre alguns dos treze tipos de glicogenoses podemos citar a glicogenose tipo 0, uma doença rara que se desenvolve na infância e implica na produção defeituosa da enzima glicogênio sintase; e a glicogenose tipo I, também conhecida como Doença de Von Gierke, que se caracteriza pela deficiência no complexo enzimático glicose-6-fosfatase, responsável pela catalisação da hidrólise de glicose-6-fosfato na metabolização do glicogênio. Apesar de todas essas doenças serem caracterizadas por glicogenoses, elas possuem diferenças quanto ao órgão afetado, à gravidade de suas manifestações, o perfil etário que cada uma atinge e no efeito enzimático. Por isso, a necessidade de estudos que correlacionam as principais causas e sintomas, e visam proporcionar uma visão global dessas desordens de hereditariedade.

The comprehension of the metabolism of different types of glycogen in the human organism becomes extremely important since, other than its relevance in providing energy and controlling glycemia, glycogen can be related to many types of diseases that compromise the human health, especially when it comes to the deficiency in enzyme anabolic and catabolic pathways. In the context of advances in the development of researches related of health area, many studies inquire a physiological understanding of the glycogen pathways exercising, resting, fasting and other conditions, as well as analyzing the most varied disorders arising from hereditary deficiencies in the carbohydrate metabolism, in polysaccharide specially. The glycogenoses are hereditary disorders, which present mainly recessive feature, related with the glycogen storage. Among the thirteen types of glycogenoses, type 0 is a rare disease that develops in early stages of life and implies in the production of defective glycogen synthase enzyme; and type I is characterized by the deficiency of the glucose-6-phosphatase enzyme complex, responsible for catalyzing the hydrolysis of glucose-6- phosphate in glycogen metabolism. Although all these diseases are characterized as being glycogenoses, they possess differences as to the organ affected, the gravity of their manifestations, the age it begins to manifest, and in which way it affects enzymatic properties. Therefore, there is a necessity of studies that correlates the main causes and symptoms, and aim to provide a global vision of these hereditary disorders.

Phytomedicines of Sickle Cell Crisis in Mezam Division, Cameroon: Preventive and Curative Cares.

Background: The aim of this study was to survey the Mezam Division of Cameroon, with a view to documenting how the population of that area treat sickle cells disease using medicinal plants, and to determine the need for further information on sickle cell disease or sickle cell anaemia in that division. Method: Two questionnaires (one to patients and the other to traditional healers) were designed to gather information on every day life of patients and their parents, and medicinal plants were collected during the field trips. Results: Seventeen plants species belonging to 16 genera and 13 families were collected. They formed 12 recipes used to treat sickle cell by 5 traditional healers. With the help of these phytotherapists, we meet 92 former and new patients aged from 1 to 35 years old. The current symptoms of the disease were anaemia, hand and foot syndrome, splenomegaly and rheumatic pains. A rate of 52.2% of patients felt better after the treatment; 19.5% of patients with ongoing treatment, felt persistent symptoms; and 28.3% abandoned the treatment. Conclusion: Two haemoglobin diseases rage in Mezam Division and present some standard clinic demonstrations of anaemia hemolytic: HbS/S and HbS/C. The therapeutic preparations with Zanthoxylum zanthoxyloides exert an influence over haematopoietic organs like the spleen, by a dedifferentiation of its cells, and the production of Hb(α2, ү2) which is the foetal haemoglobin. Thus the patient haemoglobins are S/S and F. This was observed in a patient aged 26 years old in 1999. Since that year, she is still symptom-free up to 2011. The main limitation of this research, however, may be used as a direction for future research, which is, assessing the results from the field at the chemical level in laboratories.

Neurofibromatosis de tipo 1 en un adulto joven / Neurofibromatosis type1 in a young adult

Se describe el caso clínico de un paciente de 29 años de edad, con antecedentes familiares de neurofibromatosis, quien comenzó a notar la presencia de tumores blandos subcutáneos, no dolorosos, diseminados en el tronco y en las 4 extremidades, asociados a dolor radicular y parestesias, dificultad para la marcha, así como atrofia muscular en los miembros superiores. Los resultados del examen físico neurológico y de la biopsia permitieron diagnosticar esta afección.

The case report of a 29 year-old patient with a family history of neurofibromatosis who began to notice the presence of subcutaneous soft, unpainful, disseminated tumors in the trunk and in the 4 limbs, associated with radicular pain and paresthesias, difficult walking, as well as muscle atrophy in the upper limbs is described. The results of the neurological physical examination and of biopsy allowed to diagnose this disorder.

Diagnosis and treatment of rare hereditary bleeding disorders / 中国小儿急救医学

In this feature article,we focused on rare hereditary bleeding disorders with the exception of hemophilia,hereditary factor Ⅺ deficiency and von Willebrand's disease.In order to raise the awareness and promote the diagnosis rate of the rare hereditary bleeding disorders,we discussed the classification according the bleeding mechanism,clinical features and therapeutic advance.

Advances in molecular genetic study on pathological myopia relevant gene loci / 中华实验眼科杂志

Pathological myopia(PM)is one of the global leading causes of blindness because of its severe optic complications.Previous researches implicated that hereditary factors play crucial roles in the pathogenesis of PM,and plenty molecular genetic studies,such as gene mapping and candidate gene screening,have been done to identify gene loci linked to PM.The newest advances in molecular genetic study on pathological myopia relevant gene loci were reviewed,including non-syndrome PM and system disease associated with PM.

Epidermolisis bulosa distrófica pruriginosa dominante / Dominant dystrophic epidermolysis bullosa pruriginosa

La epidermólisis bulosa distrófica es un trastorno hereditario poco frecuente y clínicamente heterogéneo. Una variante clínica inusual es la epidermolisis bulosa pruriginosa (EBP), que se caracteriza por prurito intenso y lesiones similares a prurigo nodular o liquen simple crónico; y también por la fragilidad de la piel puede conducir a hipertrofia, liquenificación, nódulos y placas. Como en las otras formas de epidermólisis bulosa distrófica, las lesiones se localizan principalmente en extremidades; la patología molecular implica mutaciones en el gen que codifica la proteína fibrilar de anclaje, el colágeno tipo VII (COL7A1). Reportamos el caso de un paciente adulto sin antecedentes patológicos con compromiso cutáneo cuyo tratamiento resultó insatisfactorio, siendo pocos los aportes de la literatura en el manejo exitoso de esta patología.

Dystrophic epidermolysis bullosa is a rare, hereditary, clinically heterogeneous skin disorder. Epidermolysis bullosa pruriginosa is an unusual clinical variant characterized by severe pruritus and simplex lichenoid or nodular prurigo-like lesions; and also by the skin fragility that may lead to hypertrophic, lichenified nodules and plaques. Like other forms of dystrophic epidermolysis bullosa, lesions are located primarily in extremities; molecular pathology involves mutations in the gene encoding the anchoring fibril protein, type VII collagen (COL7A1). We report a case of a previously healthy male adult patient with skin lesions, whose treatment was unsatisfactory, with few contributions from the literature in the successful management of this disease.

Osteólisis multicéntrica idiopática de tipo III: presentación de un caso clínico y caracterización del síndrome / Idiopathic multicentric osteolysis type III: case report and syndrome characterization

Presentamos el primer reporte de caso en Colombia de un paciente con osteólisis multicéntrica idiopática con compromiso de carpo y tarso y nefropatía. Se exponen, de manera clara y bien documentada, el cuadro clínico y paraclínico actual y la evolución del paciente, junto a una breve y completa revisión de esta enfermedad, rara, progresiva, degenerativa e incapacitante.

We report the first case in Colombia of a patient with idiopathic multicentric osteolysis with carpal-tarsal compromise and nephropathy, The current clinical and paraclinical status of the patient is clearly exposed and well documented, along with a brief and comprehensive review of this rare progressive, degenerative and disabling disease.

Telangiectasia eemorragica hereditaria: a proposito de dos casos / Hereditary hemorrhagic telangiectasias: A report of two cases

La telangiectasia hemorrágica hereditaria es un trastorno autosómico dominante de la pared de los vasos sanguíneos que se presentan tortuosos y dilatados. Clínicamente los pacientes con esta enfermedad pueden presentar hemorragias recurrentes, las que pueden ser espontáneas o secundarias a traumatismos leves, así como anemia. En este artículo, realizamos la presentación de dos pacientes (madre e hija) quienes presentan esta enfermedad.

Hereditary hemorrhagic telangiectasias is an autosomal dominant disorder of blood vessel walls that results in tortuous, dilated vessels (telangiectasias). Clinically, patients with hereditary hemorrhagic telangiectasias experience recurrent hemorrhage, which may be spontaneous or secondary to trivial trauma, and anemia. In this article we make the report of two patients (mother and her daughter).

Implementing and Evaluating a Nurse Led Hereditary Cancer Genetics Educational Program in a Korean Breast Cancer Surgery Clinic / 성인간호학회지

PURPOSE: This study was to develop and evaluate the clinical utility of the breast and ovarian cancer genetic counselling program specific for 20 Korean women(KBOCGP). METHODS: The KBOCGP was developed using three types of approaches: an ethnography among Korean women who underwent BRCA1/2 test, designing and implementing one week clinical genetic educational course for clinical cancer nurses, educational observation visits to three American cancer genetic counselling programs. And then pre-experimental design was implicated to evaluate the change of the women's knowledge about the hereditary breast and ovarian cancer and the level of the satisfaction with genetic counselling. RESULTS: The mean score of the knowledge has significantly increased from 7.45 +/- 3.86 to 11.55 +/- 2.21(t = 5.63, p < .001). The level of the satisfaction with the counselling was very high (27.47 +/- 1.35). Because most of the subjects have young kids, they showed strong concerns about their kids' getting cancer. CONCLUSION: This new KBOCGP is the satisfactory program for the education and communication of the genetic information to the Korean women with HBOC. But it is needed more to strengthen the cultural sensitivity especially to Korean family relationships. Authors recommend that this program be provided by other nurses who are counselling women at high risk of breast cancer.

Advances in The Research of Diseases Related to Notch Signaling Pathway / 生物化学与生物物理进展

Notch signaling pathway plays a vital role in cell fate decisions. Notch signals are transferred among adjacent cells through Notch receptors and their ligands, which can regulate differentiation, proliferation and apoptosis of many cell types including stem cells. They can also influence organ formation and morphopoiesis. Genetic mutations in the Notch signaling pathway are related to the emergence and development of many diseases. Notch signaling pathway is increasingly becoming important drug targets for cancer, hereditary disease such as CADASIL and other related diseases. It is also used to develop stem cell therapeutics to treat age or trauma related degenerative diseases such as Alzheimer's disease, Parkinson disease and diabetes.

PEUTZ-JEGHERS SYNDROME AND ITS SURGICAL MANAGEMENT / 西安交通大学学报(医学版)

Five patients with Peutz-Jeghers Syndrome(PJS) have been reported in this paper. One ofthem developed polypous malignancy in the rec-tum, one associated with bladder canaer. The au-thers have once performed multiple operations, in-cluded small bower Roux-Y anastomosis keepedpylorus for a patiet with duodenal obstruction in-duced by polyps. The questions related with surgi-cal management is PJS are discussed principally inthis paper.