Geographic clusters of congenital anomalies in Argentina

Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence. Prenatal diagnosis followed by referral of high-risk pregnancies to high complexity hospitals in a hospital-based surveillance system can create artifactual clusters. We assessed the referral bias by evaluating the prevalence heterogeneity within each cluster. Eight clusters of selected CAs with unusually high birth prevalence were identified: anencephaly, encephalocele, spina bifida, diaphragmatic hernia, talipes equinovarus, omphalocele, Cleft lip with or without cleft palate (CL/P), and Down syndrome. The clusters of Down syndrome and CL/P observed in this study match the previously reported clusters. These findings support local targeted interventions to lower the prevalence of the CAs and/or further research on the cause of each cluster. The clusters of spina bifida, anencephaly, encephalocele, omphalocele, congenital diaphragmatic hernia, and talipes equinovarus may be influenced by prenatal diagnosis and referral to high complexity hospitals.Fil: Groisman, Boris. Ministerio de Salud de la Nación. Centro Nacional de Genética Médica. Registro Nacional de Anomalías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gili, Juan Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Gimenez, Lucas Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Instituto Nacional de Genética Médica Populacional; BrasilFil: Bidondo, Maria Paz. Ministerio de Salud de la Nación. Centro Nacional de Genética Médica. Registro Nacional de Anomalías Congénitas; Argentina. Universidad de Buenos Aires. Facultad de Medicina; ArgentinaFil: Barbero, Pablo. Ministerio de Salud de la Nación. Centro Nacional de Genética Médica. Registro Nacional de Anomalías Congénitas; ArgentinaFil: Liascovich, Rosa. Ministerio de Salud de la Nación. Centro Nacional de Genética Médica. Registro Nacional de Anomalías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: López Camelo, Jorge Santiago. Instituto Nacional de Genética Médica Populacional; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentin

PENATALAKSANAAN FISIOTERAPI PADA GANGGUAN POLA BERJALAN AKIBAT CONGENITAL TALIPES EQUINOVARUS DI YPAC KOTA MAKASSAR

Congenital talipes equinovarus merupakan kelainan bawaan pada kaki dan pergelangan kaki yang berupa deformitas inversi, kombinasi equines dan varus dari kaki belakang, serta adduksi dari sendi subtalar dan midtarsal. Kondisi ini ditandai dengan, kontraktur jaringan di sisi medial kaki, otot-otot eversi di sisi lateral kaki tidak berkembang, otot- otot betis tidak berkembang, serta tidak menunjukkan perubahan terhadap koreksi pasif. Penelitian ini bertujuan untuk mengetahui penatalaksanaan fisioterapi pada gangguan pola berjalan pada penderita Congenital Talipes Equino Varus di SLB YPAC Kota Makassar. Dengan pemberian intervensi menggunakan Stretching dan Terapi latihan dengan Strengthening serta menggunakan alat ukur Lingkup Gerak Sendi dengan Geniometer dan Skor pirani.Hasil yang diperoleh setalah melakukan terapi sebanyak 12 kali pada kasus Congenital Talipes Equinovarus adalah pengukuran Lingkup Gerak Sendi pada pasien I dan pasien II bernilai tetap, tidak mengalami peningkatan maupun penurunan. Deformitas yang di alami pasien pada pemeriksaan awal pasien 1 pada kedua ankle bernilai, Curvature of the lateral border of the food (CLB) : 1, Medial crease of the food (MC) : 0,5 dan Posterior crease of the ankle (PC) : 1, sedangkan pasien II pada ankle sinistra Curvature of the lateral border of the food (CLB) : 1, Medial crease of the food (MC) : 0,5 dan Posterior crease of the ankle (PC) : 0,5, tidak mengalami peningkatan hingga akhir penelitian.Kata Kunci : Congenital Talipes Equinovarus, Stretching, dan Terapi latihan Strengthenin

Congenital Clubfoot

Embora o pé torto congênito seja uma das deformidades congênitas mais comuns dos membros inferiores, ainda há controvérsias com relação à etiologia e ao tratamento. Apesar da frequência relativamente alta, o tratamento é desafiador, pois objetiva a obter um pé funcional, flexível, plantígrado e indolor, com resultados permanentes. O método de Ponseti destaca-se por propiciar resultados mais satisfatórios e diminuir a necessidade de cirurgias. Entretanto, o tratamento cirúrgico deve ser indicado após falha do tratamento conservador adequadamente realizado. A tendência atual consiste em evitar as extensas liberações cirúrgicas e, quando houver necessidade de cirurgia, preconizam-se correções localizadas, também conhecidas por liberações "à la carte". A perspectiva futura fundamenta-se em conhecer resultados de tratamento a longo prazo e novos conhecimentos sobre a etiologia do pé torto congênito, especialmente do ponto de vista genético, que poderão, eventualmente, auxiliar na determinação do prognóstico e até no tratamento. Nível de Evidência: Nível II, revisão sistemática.The clubfoot is one of the most common congenital deformities affecting the lower limbs, it still presents controversial aspects regarding etiology and treatment. In spite of its relatively high frequency, the treatment is still challenging, since the long-term aim is achieving an everlasting flexible, plantigrade, pain-free and totally functional foot. The Ponseti method has gained attention and popularity because of its satisfactory results and surgery avoidance. Presently, surgical treatment is indicated only after failure of conservative methods, avoiding extensive soft-tissue release, but performing localized corrections of the deformities, a technique also know as "a la carte" release. The future perspective is based on the knowledge about long-term results and new understanding of the clubfoot etiology, especially in the genetic field, which may eventually be helpful for prognostic and treatment. Level of Evidence: Level II, systematic review

Investigating the birth prevalence of congenital club foot in both Paktya and Kapisa provinces of Afghanistan

Background: Congenital talipes equinovarus (CTEV) or Clubfoot is one of the most common birth defects of the musculoskeletal system and affects 1 in every 1000 live births each year that cause mobility impairment. The purpose of this study is to investigating the birth prevalence of congenital club foot in both paktya and kapisa provinces of Afghanistan.Methods: This descriptive cross-sectional study was performed in all live birth babies during one-year period in the Paktya regional hospital (paktya province) and Alberoni teaching hospital (kapisa province) of Afghanistan from September 2019 to September 2020. In this study, all ethical considerations were considered. The variables that were examined in our study included the following: type of delivery, maternal age, gender and form of laterality of the legs in the baby. The legs of newborn were photographed on the first day of birth and evaluated by an orthopedic surgeon. Finally, statistical data were analyzed by using SPSS softwareResults: In this study 35 cases of multiple births including 33 cases of twins and 2 cases of triplets were recorded and the rate of cesarean section was 5.96%. In this group data showed 99.65% of infants with no congenital talipes equinovarus or club foot abnormalities Subsequently, 0.35% or 36 people had congenital clubfoot which shows more incidence in male then female and unilateral form was more common.Conclusions: Based on our study result, we found that prevalence of clubfoot is about 3.5 per 1000 live birth similar to other low-income countries. Because of diagnosis and treatment of clubfoot in the early stage is more possible Therefore, timely recognition, diagnosis and treatment are significant and helpful to decrease medical expenses. Our result in this study support high prevalence of clubfoot anomaly in mentioned provinces of Afghanistan because of different genetic and environmental risk factors. To provide practical suggestions we need more epidemiologic study in all over the Afghanistan

Interventions for congenital talipes equinovarus

Congenital talipes equinovarus, or clubfoot, is a condition where the foot develops in equinus (pointing down), adductus (pointing in) and varus (twisting in). It occurs in 1 per 1000 births and without intervention leads to life-long disability and pain. This thesis examines several key areas in current research of clubfoot. Chapter 1 provides a broad overview of the definition, aetiology, assessment and management of clubfoot. Chapter 2 reports the findings of a 12 month prospective study comparing children with relapsing clubfoot requiring tibialis anterior tendon transfer to children with clubfoot not requiring tibialis anterior tendon transfer. Chapter 3 evaluates the differences in clinical severity between unilateral and bilateral cases of clubfoot and the statistical implications of examining data per foot rather than data per person. Chapter 4 examines the severity and correlation of right and left feet of bilateral cases of clubfoot and the unit of analysis error implications for future research in this sub-group. Chapter 5 presents a Cochrane Systematic Review examining all interventions for clubfoot utilising statistical models which account for the correlation in right and left feet of bilateral clubfoot cases. Chapter 6 summarises the results of Chapters 2-5 and discusses the implications for future research into the assessment, analysis and management of clubfoot deformity

Is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus? A case-only study and pedigree analysis.

Idiopathic congenital talipes equinovarus (CTEV) is a common developmental foot disorder, the aetiology of which remains largely unknown. Some aspects of the epidemiology suggest the possibility of aetiologically distinct subgroups. Previous studies consider CTEV as a homogenous entity, which may conceal risk factors in particular subgroups. We investigate evidence for aetiologically distinct subgroups of CTEV. Parents of 785 probands completed a postal questionnaire. Family pedigrees were compiled by telephone. Case-only analysis was used to investigate interactions between risk factors and sex of the proband, CTEV laterality and CTEV family history. The male:female ratio was 2.3:1, 58% of probands were affected bilaterally and 11% had a first-second degree family history. There were modest interactions between family history and twin births (multivariate case - only odds ratio [ORca]=3.87, 95%CI 1.19–12.62); family history and maternal use of folic acid supplements in early pregnancy (ORca=0.62, 95%CI 0.38–1.01); and between sex of the proband and maternal alcohol consumption during pregnancy (female, positive history and alcohol consumed: ORca=0.33, 95%CI 0.12–0.89). Previous reports of an interaction between maternal smoking and family history were not confirmed. Relatives of female probands were affected more often than relatives of male probands. These results provide tentative evidence for aetiologically distinct CTEV subgroups. They support the "Carter effect", suggesting CTEV develops though a multifactorial threshold model with females requiring a higher risk factor "load", and suggest areas where future aetiological investigation might focus. Large multi-centre studies are needed to further advance understanding of this common condition

Profile of congenital lower limb defects in a rural Kenyan hospital and literature review

Knowledge of the profile of congenital limb defects in a population is important in informing their prevention, management and rehabilitation strategies. The profile displays geographical and ethnic variations. There are few reports from African countries, most of them being case reports. This study aimed at reporting congenital defects of lower limb observed in a rural hospital in Kenya. Records from PCEA Kikuyu Hospital were examined retrospectively for the period 2002-2011. Visible physical defects recorded, age and gender of the victims were analyzed. Images of some remarkable defects were examined. Literature review has been done regarding the defects. Ten varieties of congenital defects were identified. The most common of them were tibial pseudoarthrosis (6) followed by polydactyl, (5) and congenital talipes equinovarus (4). The mean age at presentation was 9 years and there were more males than females. Most of the cases occurred in isolation, with only a few occurring in combination. There is wider variety of lower limb defects in a Kenyan hospital than is usually reported in other studies. Tibial pseudoarthrosis is most common defect. Medical personnel should be aware of this wider scope of limb defects. In addition, greater emphasis should be given to systemic examination of the affected children and rehabilitative management.Keywords: Diplopodia, cleft foot, macrodactyly, pseudoarthrosis, polydactyly, syndactyly

Demographic study of congenital talipes equinovarus deformity in central India

Background: Congenital idiopathic clubfoot is the most common birth defect of the musculoskeletal system affecting 1 in every 1000 live births each year. Aim of our study was to determine the demographic variables, risk factors associated with CTEV in central India.Methods: A retrospective study was conducted from January 2019 to August 2020 using data of 200 patients with CTEV registered at department of orthopaedics, Netaji Subhash Chandra Bose medical college, Jabalpur, Madhya Pradesh, India were included in our study.Results; Out of total of 200 patients, 167 patients belong to age group <1 year (83.5%) with range from 10 days -7 years. Males were twice (65%) likely affected and (53.5%) clubfoot cases had both feet affected. Right side was more affected in unilateral cases. 189 patients (94.5%) were idiopathic, whereas 11 patients (5.5%) were non-idiopathic. there were 58 (29%) children out of 200, born of consanguineous marriage of parents. Risk factors like anemia, jaundice, asphyxia, obstructed labor, history of miscarriage had positive correlation with clubfoot. CTEV patients of low birth weight <2.5 kg associated with maternal risk factors like smoking, alcohol, anemia.Conclusions: Demographic study is useful tool for determining birth prevalence and risk factors associated with CTEV. There are significantly higher proportion of consanguinity in clubfoot patients. Cultural differences may lead to differences in our findings with respect to the previous studies. These preliminary findings will help in the future for similar studies in central India as well as in the general Indian population