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

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.

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.

[Amniotic band syndrome: prenatal diagnosis and management challenges (about 2 cases of lethal malformations)]. / Maladie des brides amniotiques: diagnostic anténatal et difficultés de prise en charge (à propos de 02 cas de malformations létales).

Amniotic band syndrome (ABS) comprises of a spectrum of complex congenital malformations mainly interesting the limbs, but even the craniofacial region and the thoracoabdominal axis. There are two major opposing pathophysiological theories: premature rupture of the amniotic sac (exogenous growth theory) would result in the formation of fibrous bands which would lead to strangulation, thus causing the observed abnormalities; the endogenous theory holds that this is a syndrome of vascular origin and that the bands have no causative role. Prognosis depends on the severity of malformations. We here report two cases of lethal malformations in order to discuss the challenges in the diagnosis and treatment of amniotic band syndrome. This study mainly aims to highlight the role of prenatal diagnosis in the therapeutic management of this embryo-fetopathy.

Osteomyelitis in limb amputated by amniotic band sequence.

A preterm (30+2 week) neonate with below-knee amputation (right lower limb), constriction rings and syndactyly, subsequent to amniotic band sequence, developed pus discharge from the right tibial stump. The neonate did not have clinical features of systemic sepsis. Blood culture was sterile. The pus culture, however, grew methicillin-resistant coagulase-negative Staphylococcus and bone scan was suggestive of osteomyelitis of right proximal tibial stump. Osteomyelitis was likely caused by the contiguous spread of infection from the exposed stump. Neonate was treated with intravenous antibiotics for 4 weeks and discharged on oral feeds.

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.

Uterine contractility as a cause of amniotic band syndrome.

OBJECTIVE: The objective of this study was to determine whether puncturing the uterine wall and the amnion causes uterine contractions that result in fetal abnormalities. MATERIALS AND METHODS: An experimental study was performed using four groups of three female rabbits. Group A received a puncture of the amniotic membranes of one of the uteri on day 15 of gestation followed by group B on day 16, group C on day 17, and group D on day 18. The duration and force of contractions and fetal abnormalities were determined. RESULTS: There were immediate contractions after the puncture, which lasted 20 to 132 seconds with forces that ranged from 309 to 4,411 mg. All of the experimental fetuses exhibited anomalies of the head and extremities, exencephaly, cleft palates, and an absence of eye-lids. CONCLUSION: Injury to the uterine wall and the aniion can immediately cause uterine contractions, which are associated with different types of fetal abnormalities.

Forearm amputees' views of prosthesis use and sensory feedback.

STUDY DESIGN: Qualitative descriptive. INTRODUCTION: The lack of sensory feedback in today's hand prostheses has been in focus recently but the amputees' experiences need to be further investigated. PURPOSE: To explore forearm amputees' views of prosthesis use and sensory feedback. METHODS: Thirteen unilateral congenital or traumatic forearm amputees were interviewed. The transcribed text was subjected to content analysis. RESULTS: Prostheses both facilitate and limit occupational performance. Appearance is important for identity and blending into society. The feeling of agency regarding the prostheses is present but not that of body ownership. Future expectations concerned improved mobility, cosmetics, and sensory feedback. CONCLUSIONS: This study allows a deeper understanding of the complex relationship between a prosthetic device and the wearer. Today's prostheses allow the wearer to feel agency concerning the artificial limb but the lack of sensory feedback seems to be an important factor still blocking the achievement of body ownership of the prosthesis. LEVEL OF EVIDENCE: Not applicable.

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.

Amniotic band sequence: an extreme case.

Amniotic band sequence (ABS) is a rare cause of fetal disruptions associated with fibrous bands that entrap various fetal parts in utero and lead to abnormalities. Fetal disruptions of ABS are influenced by the timing of the amnion rupture and the site of amnion adherence. Herein we report an extreme case of ABS presented with dysmorphic face, amputation of four extremities and fusion of legs and genitalia with a fibrotic band. This is an extreme case of ABS characterized by an unusual combination of multiple fetal anomalies.

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.

Atypical presentation of amniotic band sequence.

Amniotic Band Sequence (ABS) is a disruption sequence that results in a variable group of abnormalities secondary to the disruption process and subsequent deformations. The incidence of ABS ranges from 1:1,200 to 1:15,000 live-born, and is even higher in still-born [Froster and Baird, 1993: Am J Med Genet 46:497-500]. The pathophysiology of ABS remains controversial, but a close look to critical periods of embryogenesis and/or organogenesis has helped in understanding pathogenetic mechanisms leading to the ABS disruption. The abnormalities are typically limited to external structures; however, associated internal malformations as seen in the case reported here may occur [Hunter and Carpenter, 1986: Am J Med Genet 24:691-700]. The prognosis depends on the severity of the abnormalities and the involvement of internal organs [Froster and Baird; 1993: Am J Med Genet 46:497-500; Levy, 1998: Ped Rev 19:249].

The placenta and its significance in neonatal outcome.

The placenta should not be overlooked as a source of much valuable diagnostic information. Close evaluation of the placenta and its attached membranes may reveal further information. Essential data may be obtained from pathologic examination, and if questions exist, specimens should be retained with proper care.

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