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Carpal coalitions, resulting from a failure of separation of the cartilaginous precursors of the carpal bones during gestation, may be osseous or non-osseous. Even though lunate-triquetral coalitions are the most common of all carpal coalitions there is only one previous palaeopathological report of such a coalition. This study presents a non-osseous lunate-triquetral coalition found amongst the mostly cremated commingled bones from a Chalcolithic pit at Perdigoes (Portugal). The cremated bones show evidence of burning at varying but mostly at generally high temperatures. The perfect articulation between these right bones and pinpoint pitting in the lunate-triquetral joint were crucial for the identification of this congenital condition. Carpal coalitions are more frequent in African than European populations. Artifacts produced from ivory of African origin were found in Perdigoes, however it is not possible to establish the ancestry of this individual. ERA Arqueologia S.A. [PTDC/EPH-ARQ/0798/2014] Portuguese Fundacao para a Ciencia e TecnologiaPortuguese Foundation for Science and Technology/European Commission info:eu-repo/semantics/publishedVersion

В статье демонстрируется клинический случай дефицита альфа-1антитриписина у ребенка 4 месяцев. Ребенок Е родился в роддоме №1 г.Якутска. Мать наблюдалась в медико-генетической консультации в связи с невынашиванием беременности. В 1 половине - токсикоз легкой степени до 13-14 недель, с 10 недели угроза прерывания беременности. Мать получала утрожестан. В сроке 15-16 недель мать ребенка заболела инфекцией SARS-CoV-19. Данная инфекция была подтверждена положительной реакцией ПЦР (полимеразная цепная реакция). Лечилась амбулаторно, получала гриппферон, полоскание зева отварами трав. С 17 недели беременности выявлен низкий уровень гемоглобина (90 г/л), назначен препарат фенюльс. У матери ребенка также были выявлены уреаплазмоз и микоплазменная инфекция методом имунофлюорисцентного анализа. Вредных привычек у матери не отмечено. Роды произошли на сроке 27 недель. Масса тела при рождении 1040 гр. Длина тела 34 см. Окружность головы 27 см, окружность груди 22 см. Оценка по шкале Апгар 1/3/5. С 17.02.2021 года в возрасте 1месяц 19 суток появился ахоличный стул, по данным биохимического анализа крови от 18.02.2021 повышение уровня аланинаминотрансферазы (180,2), фракция прямого и непрямого билирубинов (215,66 и 24,3), щелочная фосфатаза 1223 Ед/л. Лечащим врачом ребенка было принято решение, в связи с нарастанием уровня прямого билирубина, сохранением высокого уровня аланинаминотрансферазы, быстрым нарастанием щелочной фосфатазы, плохим усвоением энтерального питания, плохой прибавкой массы, затянувшейся желтухой необходимо исключить наследственные метаболические заболевания. В результате обследования в РБ№1 НЦМ, кареотипирования и фенотипирования диагноз был подтвержден. В данное время ребенок получает полный объем необходимого симптоматического лечения., The article demonstrates the clinical case of Alpha-I antitrypsin deficiency of a 4-month child. Child E was born in the maternity hospital №1 in Yakutsk. The mother was observed at a medical genetic consultation due to a habitual miscarriage. In the 1st half - mild toxicosis up to 13-14 weeks, risk of miscarriage from 10 weeks. The mother took Utrogectan. At 15-16 weeks, the mother contracted SARS-CoV-19. The infection was confirmed by a positive PCR (polymerase chain reaction). She was an outpatient, received Grippferon, pharynx rinsing with herbal decoctions. From the 17th week of pregnancy, a low level of hemoglobin (90 g/l) was detected, and Phenyls were prescribed. The mother was also diagnosed with ureaplasmosis and mycoplasmal infection by immunofluorescence. The mother had no unhealthy habits. The birth happened on 27'th week. Body weigh at birth - 1040 gr. Body height - 34 cm. Head circumference - 27 cm., chest circumference - 22 cm. Apgar's score - 1/3/5. From 17.02.2021 at the age of 1 month 19 days, there was an acholic stool, according to a biochemical blood test performed on 18.02.2021, an increase in the level of alanine transaminase (180.2), a fraction of direct and indirect bilifulvin (215.66 and 24.3), alkaline phosphatase 1223 u/l. The attending physician of the child made a decision, due to the increase of the level of direct bilifulvin, the presence of a high level of alkaline phosphatase, the rapid growth of alkaline phosphatase, poor uptake of enteral nutrition, poor weight gain, prolonged jaundice, to cross out hereditary metabolic diseases. The diagnosis was confirmed with tests, karyotyping and phenotyping in RB№ 1 NMC. At this period, the child receives the full amount of necessary symptomatic treatment., Международный научно-исследовательский журнал, Выпуск 5 (5119) 2022, Pages 128-132

Resumen: La gastrosquisis es el defecto congénito más frecuente de la pared abdominal anterior. Se clasifican en simple o complicadas según si presentan o no anomalías a nivel intestinal. El diagnóstico prenatal se realiza en un 75%-95% de los pacientes. El tratamiento es quirúrgico, lográndose un cierre primario en el 80% de los casos. La mortalidad global reportada a nivel internacional es de un 10%. Se realizó un estudio observacional descriptivo retrospectivo transversal en el que se analizaron los pacientes con gastrosquisis operados en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell entre el primero de enero de 2011 y el 30 de mayo de 2016. Se estudiaron las siguientes variables: incidencia de la patología, edad materna, edad gestacional al diagnóstico y al nacimiento, vía de nacimiento, anomalías asociadas, técnica quirúrgica, incidencia de complicaciones y mortalidad. En el período estudiado se intervinieron 62 pacientes con diagnóstico de gastrosquisis, de los cuales 48 fetos (77,4%) tenían diagnóstico prenatal. El 53,2% nacieron por parto vaginal y 53 % nacieron pretérmino. En el 85,5% se logró realizar un cierre primario. El 69,4% de los neonatos presentaron complicaciones, siendo las infecciosas las más frecuentes. La mortalidad fue de 12,9%, siendo la sepsis la causa más frecuente. Si bien hemos mejorado en el índice de diagnóstico prenatal y en la vía de nacimiento, y las cifras de tratamiento y mortalidad se encuentran dentro de las cifras publicadas a nivel internacional, existe un elevado número de complicaciones infecciosas, que condicionan la evolución y pronóstico de estos pacientes. Abstract: Gastroschisis is the most frequent congenital defect of the anterior abdominal wall. They are classified as simple or complicated according to whether or not they present abnormalities at the intestinal level. Prenatal diagnosis is made in 75%-95% of the patients. The treatment is surgical, achieving a primary closure in 80% of cases. The global mortality reported at an international level is 10%. A cross-sectional retrospective observational study was performed in which gastroschisis patients operated at the Pediatric Hospital of the Pereira Rossell Hospital Center between January 1, 2011 and May 30, 2016 were analyzed. The following variables were studied: the pathology, maternal age, gestational age at diagnosis and at birth, birth route, associated anomalies, surgical technique, incidence of complications and mortality. In the period under study, 62 patients diagnosed with gastroschisis were operated on, of which 48 fetuses (77.4%) had a prenatal diagnosis. 53.2% were born by vaginal delivery and 53% were born preterm. In 85.5% a primary closure was achieved. 69.4% of the neonates presented complications, infectious being the most frequent. Mortality was 12.9%, with sepsis being the most frequent cause. Although we have improved in the prenatal diagnosis index and in the route of birth, and the figures of treatment and mortality are among the figures published internationally, there is a high number of infectious complications, which condition the evolution and prognosis of these patients. Resumo: A gastrosquise é o defeito congênito mais freqüente da parede abdominal anterior. São classificadas como simples ou complicadas de acordo com a presença ou não de anormalidades no nível intestinal. O diagnóstico pré-natal é feito em 75% a 95% dos pacientes. O tratamento é cirúrgico, atingindo o fechamento primário em 80% dos casos. A mortalidade global reportada a nível internacional é de 10%. Um estudo observacional transversal foi realizado em gastrosquise retrospectiva que os pacientes operados no Hospital Pediátrico Pereira Rossell Hospital do Centro entre 1 de Janeiro de 2011 e 30 maio de 2016 foram analisados. As variáveis estudadas foram: a patologia, idade materna, idade gestacional no diagnóstico e no nascimento, rota nascimento, anomalias associadas, técnica cirúrgica, a incidência de complicações e mortalidade. No período em estudo, 62 pacientes diagnosticados com gastrosquise foram operados, dos quais 48 fetos (77,4%) tiveram o diagnóstico pré-natal. 53,2% nasceram por parto vaginal e 53% nasceram prematuros. Em 85,5%, um fechamento primário foi alcançado. 69,4% dos neonatos com o ser infeccioso mais freqüente. A mortalidade foi de 12,9%, sendo a sepse a causa mais freqüente. Temos melhorado, embora diagnóstico pré-natal no índice e na rota de nascimento, e os números de tratamento e mortalidade estão entre os números publicados Internacionalmente, há um elevado número de complicações infecciosas, que condicionam a evolução eo prognóstico desses pacientes.

В статье представлена клиническая картина и дифференциальный диагноз редкого синдрома «Синдром вьюнки»., In the article provided clinical picture and differential diagnosis of the rare syndrome «Morning glory».