Funcionalidad de prótesis de mano impresa en 3D en adolescentes con amputación congénita parcial de mano: una serie de casos / 3D-printed hand prostheses function in adolescents with congenital hand amputation: a case series

Resumen: Objetivo: Describir el efecto de la prótesis impresa en 3D Cyborg Beast en la funcionalidad de miembros superiores (MMSS) en adolescentes con amputación congénita parcial de mano. Casos Clínicos: Se seleccionaron 5 pacientes entre 12 y 17 años con amputación congénita parcial de mano en el Instituto Teletón Santiago. Los pacientes fueron entrenados en el uso de la prótesis por 4 sesiones. Se evaluó la función basal (sin prótesis), al mes y los 4 meses de uso de la prótesis con la pauta Bilan 400 points modificada y la percepción de funcionalidad de MMSS sin y con prótesis con la "Upper Extremity Function Index (UEFI)". Al mes y 4 meses de uso, el porcentaje de cambio para funcionalidad de mano fue de -11% y -4% para la extremidad no afectada y de -9% y -2% para la afectada. El porcentaje de cambio para la percepción de funcionalidad de MMSS fue de -62%. Conclusiones: El uso de la prótesis de mano Cyborg Beast no fue una solución funcional para los 5 pacientes incluidos en este estudio. Futuras investigaciones son necesarias para poder mejorar la funcionalidad de estos diseños de prótesis impresa en tecnología 3D.

Abstract: Objective: To describe the effect of the 3D-printed Cyborg Beast prosthesis on upper limbs function in adolescents with congenital hand amputation. Clinical Cases: Five patients aged between 12 and 17 years, with congenital hand amputation were selected. All patients were from the Teletón Institute in Santiago, Chile. The patients were trained for prosthesis use in four sessions. Hand function was evaluated without prosthesis, at 1 and 4 months of use with the modified Bilan 400 points scale, and upper limb function perception was evaluated with the 'Upper Extremity Functional Index (UEFI)'. At 1 month and 4 months of use, the percentage change for hand functionality for the unaffected limbs was between -11% and -4%; and -9% and -2% for the affected limb. The percentage change for the upper limbs perceived function was -62%. Conclusions: The use of the 3D-printed Cyborg Beast prosthesis was not a functional solution for the 5 patients included in this study. Future research is needed to improve the functionality of these types of 3D-printed hand prostheses.

Prevalence, risk factors, and outcome of postprocedural amniotic band disruption sequence after fetoscopic laser surgery in twin-twin transfusion syndrome: a large single-center case series.

BACKGROUND: Postprocedural amniotic band disruption sequence is a condition that is associated with intrauterine interventions, and it is characterized by a constriction of the limbs or umbilical cord by fibrous strands, leading to edema, amputation, and/or fetal demise. OBJECTIVE: To evaluate the prevalence of, risk factors for, and the outcome of postprocedural amniotic band disruption sequence after fetoscopic laser surgery in twin-twin transfusion syndrome cases. STUDY DESIGN: All consecutive cases of twin-twin transfusion syndrome treated with fetoscopic laser coagulation of the vascular anastomoses at our center between January 2002 and March 2019 were included in the study. The occurrence of postprocedural amniotic band disruption sequence in these cases was recorded, and the potential risk factors were analyzed. RESULTS: Postprocedural amniotic band disruption sequence was detected, at birth, in 2.2% (15/672) of twin-twin transfusion syndrome cases treated with fetoscopic laser surgery, in both the recipients (10/15, 67%) and the donors (5/15, 33%). Postprocedural amniotic band disruption sequence primarily affected the lower extremities (11/15, 73%) and, less frequently, the upper extremities (2/15, 13%), both the upper and lower extremities (1/15, 7%), or the umbilical cord (1/15, 7%). Postprocedural amniotic band disruption sequence led to the amputation of toes in 5 of 15 cases (33%) and resulted in fetal demise because of constriction of the umbilical cord in 1 case (7%). The independent risk factors identified for postprocedural amniotic band disruption sequence were lower gestational age at laser surgery (odds ratio per week, 1.43; 95% confidence interval, 1.12-1.79; P=.003) and the presence of postprocedural chorioamniotic membrane separation on antenatal ultrasound examination (odds ratio, 41.66; 95% confidence interval, 5.44-319.25; P<.001). CONCLUSION: The prevalence of postprocedural amniotic band disruption sequence is low, but, when present, it may lead to severe consequences, with amputation of extremities or fetal demise occurring in more than one-third of the cases. Lower gestational age at the time of laser therapy and chorioamniotic membrane separation are independent risk factors for the postprocedural amniotic band disruption sequence.

Case series: Amniotic band sequence with craniofacial abnormalities.

BACKGROUND: To objectively describe craniofacial, visual, and neurological features associated with amniotic band syndrome (ABS) and discuss likely associated multifactorial etiology. METHODS: A retrospective review of patients identified with ABS and concomitant limb involvement and craniofacial features was conducted. The following data were collected from the patients' medical records: demographic information, past medical history including birth history, surgical history, previous clinic visits/physical exams, description of craniofacial features and ABS, family history, any noted obstetric complications, visceral features, visual features, craniofacial features, intracranial features, neurological symptoms, developmental features, diagnostic tests (including radiographs, IQ testing, EEG findings, chromosomes), photographs, and treatment history. RESULTS: Seven patients were included in the final cohort, all of whom had a cleft lip with six having both cleft lip and palate. Other craniofacial abnormalities seen were facial clefts which were vertical oblique in nature, tear duct involvement, cranial deformities that required surgical correction with cranial reconstruction, recorded hypertelorism with vision and gaze abnormalities, coloboma, lagopthalmos and optic never dysplasia. CONCLUSIONS: This case series presents seven children with craniofacial involvement associated with amniotic band sequence and attempts to categorize the salient dysmorphology and neurocognitive development. Major craniofacial anomalies in patients with ABS is a rare clinical finding that cannot be completely explained on the basis of premature amniotic layer disruption alone. This study supports that the dysmorphology seen in cases of ABS with craniofacial involvement is complex and most likely multifactorial. LEVEL OF EVIDENCE: IV Case Series.

Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia.

Congenital limb deficiency defects (LDDs) are etiologically heterogeneous. Acquired causes include amniotic bands, teratogens exposure, and chorionic villus sampling before 10 weeks' gestation and intrinsic causes include single-gene disorders and chromosome abnormalities. However, a substantial number of cases, especially terminal transverse deficiency defects, occur without an obvious cause and are ascribed to vascular disruption events. Some studies have found an association between maternal thrombophilia and congenital LDDs. We investigated this association through a review of all prenatally identified LDDs at a major tertiary care center in Toronto, Canada over a 12-year period. Our results showed a higher prevalence of thrombophilias among women with a pregnancy affected with an LDD when compared to the general population [χ2 (3) = 54.63, P < 0.01]. Our research was strengthened by the inclusion of affected pregnancies regardless of outcome, and strict criteria to avoid including LDDs with a non-vascular etiology. Most LDDs were identified during the routine 18-20 week anatomy ultrasound, but some were discovered as early as 13 weeks' gestation. We found an excess of left-sided defects among terminal transverse but not longitudinal deficiencies; additionally, all diagnoses of maternal thrombophilia occurred in the terminal transverse group. Our results support thrombophilia screening in all women with a prenatally diagnosed fetal LDD as well as careful evaluation of the fetal extremities during prenatal ultrasounds in women with a known thrombophilia. © 2016 Wiley Periodicals, Inc.

The epithelial mesenchymal transition process may contribute to the pathogenesis of amniotic band syndrome.

The etiology of the amniotic band syndrome is unknown, and has been subject of debate since the time of Hippocrates. The most accepted theories fail to cover all the abnomalities found in affected children. During organogenesis the epithelial-mesenchymal transition process (EMTP) participates in adequate formation of different organs from three embryo layers. Altered activation of EMTP occurs when the epithelial homeostasis is disturbed, the resulting myofibroblasts are able to secrete extracellular matrix proteins and deposit them on the tissues contributing to a fibrotic phenotype. If injury occurs during organogenesis, wound healing could be exaggerated and fibrotic response could be triggered. The molecule that regulates both of these processes (EMTP and fibrosis) is the transforming growth factor ß (TGFß); indeed null animals for TGFß isoforms show similar defects than those seen in the amniotic band syndrome. Based on documented evidence this review intends to explain how the epithelial mesenchymal transition process may contribute to the pathogenesis of amniotic band syndrome.

The use of the Ponseti method to treat clubfeet associated with congenital annular band syndrome.

BACKGROUND: A clubfoot deformity may be associated with congenital annular band syndrome (CABS), and has, until recently, been thought to be resistant to nonoperative management. The purpose of this report was to describe the use of the Ponseti method in the treatment of 5 patients whose clubfeet were associated with this syndrome. METHODS: All patients with a diagnosis of clubfoot, who were treated at the Orthopaedic Hospital Clubfoot Clinic, over a period of 4 years, were reviewed. During that period, a total of 131 infants with 194 clubfeet were treated. We identified 5 infants (3.8%) with 6 clubfeet associated with CABS. The patients were managed using the Ponseti method. One of the patients, with a contralateral amputation of the limb opposite to the side with a clubfoot, required the use of a unilateral foot abduction orthosis rather than a conventional foot abduction orthosis. The outcomes evaluated included: the number of casts needed to obtain correction, the percentage of patients requiring a tendo-Achilles tenotomy, the number of relapses, and the need for additional secondary procedures. RESULTS: The mean age at presentation for the 5 patients was 6.2 weeks. Four of the clubfeet had an ipsilateral band and 2 did not. None of the patients had a neurological deficit distal to a band. The mean number of casts used to correct the deformity was 6, and a percutaneous tendo-Achilles tenotomy was done in all cases. All of the feet achieved initial correction. Four patients (5 feet) experienced a relapse attributed to failure to use the postcorrective brace as prescribed. Correction of the foot in 3 of these patients was regained and maintained by another series of manipulation and cast application followed by resumption of bracing. One patient underwent an anterior tibial tendon transfer. The patients were followed for an average of 32.6 months (21 to 49 mo). All feet were supple and plantigrade at latest follow-up evaluation. CONCLUSIONS: The Ponseti method may be successfully applied to clubfeet associated with CABS. LEVEL OF EVIDENCE: Level IV.

Limb constriction secondary to pseudoamniotic band syndrome after selective fetoscopic laser surgery: report of a case with a favorable outcome.

Pseudoamniotic band syndrome (PABS) is an iatrogenic complication that causes entanglement of fetal parts in a constrictive sheet of detached or ruptured amniotic membrane after an invasive procedure, namely amniocentesis, amnioreduction or septostomy in twins. The incidence and risk factors for PABS after fetoscopy-guided laser have not been documented [Winer et al.: Am J Obstet Gynecol 2008;198:393.e1-393.e5]. We report a case of monochorionic biamniotic twin pregnancy submitted to selective fetoscopic laser photocoagulation for twin-to-twin transfusion syndrome at 16 weeks of gestation. The procedure was complicated by the death of one of the fetuses at 24 weeks of gestation. Moreover, the surviving twin was diagnosed postnatally with pseudoamniotic band syndrome, presenting with affected limbs. The newborn was submitted to surgical correction of these lesions with a successful outcome and was discharged on day 15.

Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects.

BACKGROUND: Limb reduction deficiencies that are accompanied by amniotic bands (AB-Ls) and terminal transverse limb deficiencies (TLDs) have each been attributed to vascular disruption; for the former, however, it is not clear if amniotic bands are the primary cause of or are secondary to vascular disruption. If amniotic bands are secondary to vascular disruption, then a shared pathogenesis for each case group might be exhibited by similar risk factors. METHODS: We evaluated maternal age, education, race/ethnicity, parity, pregnancy wantedness, and vasoactive exposures among 139 AB-L and 373 TLD cases, using interview data collected from mothers in 10 states by the National Birth Defects Prevention Study. Vasoactive exposures included maternal cigarette smoking and use of decongestants, nonsteroid anti-inflammatory drugs, and antihypertensive drugs in the periconceptional period. RESULTS: Increased risk estimates were observed for Black mothers (OR 2.5; 95% CI: 1.5-4.1) and nulliparous mothers (2.1; 1.4-3.0) in relation to AB-L, while neither was associated with TLD. Hispanic women (1.4; 1.0-1.9) and those not wanting the pregnancy (1.5; 1.1-2.1) had increased risks of TLD, but not AB-L. Maternal cigarette smoking and aspirin use each increased the risk of AB-L, but not TLD; while decongestants and possibly antihypertensive medications increased the risk of TLD, but not AB-L. CONCLUSIONS: The lack of consistent findings for the two case groups suggests that AB-L and TLD may be distinct entities. The inconsistencies also suggest that these vasoactive exposures may not be markers for vascular disruption or that vascular disruption may not play a major role in the pathogenesis of these two types of limb deficiencies.

Brida amniótica: achados sonográficos e correlações etiopatogênicas / Amniotic band: sonographic findings and etiopathogenic corretations

A síndrome da brida amniótica é descrita como um conjunto de malformações congênitas que incluem desde pequenos anéis de constrição em torno dos membros e dedos fetais, com ou sem amputação dos mesmos, até anomalias congênitas maiores, múltiplas ou isoladas. Por ser evento raro, suas estimativas são conflitantes e variam conforme a metodologia empregada. Em relação ao processo fisiopatológico que determina essa condição, comumente se aceita que uma precoce ruptura amniótica proporcionaria o contato do feto com a superfície coriônica do âmnio, advindo então a aderência dessa estrutura a vários segmentos fetais. Como resultado, teríamos os anéis de constrição, as amputações e outras anomalias superficiais. Contudo, são várias as malformações associadas à síndrome da brida amniótica que não encontram nessa teoria uma explicação razoável. Entre outras, são comumente citadas as cardiopatias, hérnia diafragmática congênita, agenesia renal, malformações genitais internas, atresia anal e holoprosencefalia. Dessa forma, este artigo objetiva revisar achados sonográficos associados ao diagnóstico intra-útero da síndrome da brida amniótica, bem como discutir as correlações etiopatogênicas disponíveis na literatura.

Síndrome de brida amniótica y complejo "limb-body-wall": a propósito de un caso clínico / Amniotic brida syndrome and limb-body-wall complex: reviewing a clinical case

Se presenta un caso de síndrome de Brida amniótica que es una malformación congénita caracterizada por la formación de bandas fibrosas derivadas del amnios y que comprimen y estrangulan partes fetales especialmente cráneoencefálicas y de las extremidades. La etiopatogenia es desconocida y se descarta la participación de factores genéticos. Las formas menores son susceptibles de fetocopia y compatibles con la sobrevida. Las formas severas son incompatibles con la vida.

Amputación prenatal del pie en un recién nacido causado por bridas amnióticas / Amputation of a newborns's foot caused by amniotic bands

Introducción. Secundario a la ruptura del amnios, pequeños filamentos de éste pueden anudar estructura en desarrollo produciendo: constricciones anulares, pseudosindactilia, amputaciones intrauterinas y constricción del cordón umbilical. Este patrón de malformación conocido como secuencia de bridas amnióticas es en la mayoría de los casos de etiología desconocida. El riesgo de recurrencia es insignificante. Caso clínico. Se informa el caso de un recién nacido pretérmino, obtenido por cesárea debido a sufrimiento fetal agudo, en quien se encontró el pie derecho amputado incrustado en las membranas placentarias. Además, los dedos segundo, tercero y cuarto de la mano izquierda se observaron amputados a nivel de la articulación interfalángica distal. Conclusiones. Se considerá importante comunicar este caso de secuencia de bridas amnióticas en el cual se encontró el pie derecho amputado unido a las membranas fetales. Este caso ilustra la importancia de evaluar en forma sistemática la placenta ya que de otra manera este diagnóstico podría pasar inadvertido

Amniotic band syndrome in fetal lambs. I: Fetoscopic release and morphometric outcome.

A fetal lamb model of amniotic band syndrome (ABS) was developed to study the pathophysiology of banded extremities and evaluate the possibility of in utero treatment with the potential for functional recovery. Eight fetal lambs underwent banding of their extremities with umbilical tape at 100 days' gestation. Two lambs aborted after the open fetal surgery. The limbs of two unoperated newborn lambs served as controls in addition to five sham-operated control limbs that had no bands applied. Nine limbs were banded without reducing blood flow assessed by laser doppler (group 1), and 6 limbs were similarly banded and released fetoscopically at 125 days' gestation. Four limbs were banded, with a mean reduction in blood flow to the limb of 18.7% (group 2) by laser doppler flowmeter. Shortly after birth the lambs were killed, and segmental limb length, circumference, joint range of motion, and histology were evaluated. At birth, banded limbs showed marked brawny edema and absence of wool distal to the band. Segmental limb measurements showed shorter distal forelimbs in banded limbs compared with controls (10.97 +/- 0.59 versus 12.98 +/- 0.69, P < .05). Banded limbs were associated with progressive increase in hoof circumference (P < .03) and a decrease in joint range of motion (P < .003). In sharp contrast, there were no differences between fetoscopically released limbs and control limbs in any of the parameters measured. Histology of banded extremities showed edema, venous and lymphatic congestion, and fibrosis compared with controls. This model of ABS in fetal lambs is simple, reproducible, and replicates all the clinical features of extremity ABS.(ABSTRACT TRUNCATED AT 250 WORDS)

Síndrome de bridas amnióticas: descripción de dos casos clínicos y discusión etiopatogénica / Amniotic band syndrome: description of 2 clinical cases and etiopathogenic discussion

Se presentan dos casos de recién nacidos con alteraciones compatibles con el síndrome de bridas amnióticas. El primero presenta posturas viciosas de extremidades inferiores y mutilaciones de las superiores, además de labio leporino complicado. El segundo caso corresponde a una brida facionucal que practicamente separa la boca del resto de la cara. A la luz de ambos casos se hace una revisión crítica de las teorías etiológicas planteadas en la literatura

Sindrome de banda amniotica: case report / Amniotic band syndrome: case report

Este trabalho relata o caso de um lactente de dois meses de vida, encaminhado de Sao Francisco do Sul (SC), por apresentar estigmas clinicos de complexo disruptivo de banda amniotica. Sao discutidos aspectos etiopatogenicos, quadro clinico, epidemiologia, diagnostico e evolucao, fazendo uma revisao nas descricoes bibliograficas.

Sindrome da brida amniotica / Amniotic band syndrome

Os autores descrevem um caso de sindrome da brida amniotica com comprometimento facial, cranial e pe torto congenito. As manifestacoes clinicas principais e a etiologia da sindrome sao discutidas, ressaltando o cuidado com o amniocentese no primeiro trimestre. A sindrome da brida amniotica (S.B.A.) tem varias sinonimias: constricao anular congenita, bandas amniogenicas, banda de tecido aberrante "adam complex" ("amniotic deformaty, adhesions, mutilations") e sequencia da brida amniotica. Ela e constituida por uma serie de anomalias anatomicas do recem-nascido, associadas a estrangulamento de partes feitas "in utero" levando a deformacoes, malformacoes ou roturas. A apresentacao deste caso clinico tem o objetivo de alertar os pediatras e obstetras para esta patologia pouco frequente e cujo diagnostico e muitas vezes feito erroneamente, em vista das multiplas caracteristicas que a sindrome da brida amniotica pode assumir.

Amnion rupture sequence in Jamaica: a report on 2 cases

Two cases of amnion rupture sequence resulting in grossly malformed stillborn infants are described. One baby had marked craniofacial defects while the other had a combination of craniofacial, abdominal wall and limb abnormalities. These are the first such cases to be reported in the English-speaking Caribbean; and aspects of the aetiology, pathogenesis, clinical and pathological features are discussed