Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study.

Current knowledge of transitional care from the perspective of individuals with congenital malformations is scarce. Their viewpoints are required for the development of follow-up programs and transitional care corresponding to patients' needs. The study aimed to describe expectations, concerns, and experiences in conjunction with transfer to adult health care among adolescents, young adults, and adults with VACTERL association, (i.e. vertebral defects, anorectal malformations (ARM), cardiac defects (CHD), esophageal atresia (EA), renal, and limb abnormalities). Semi-structured telephone interviews were performed and analyzed with qualitative content analysis. Of 47 invited individuals, 22 participated (12 males and 10 females). An overarching theme emerged: Leaving the safe nest of pediatric health care for an unfamiliar and uncertain follow up yet growing in responsibility and appreciating the adult health care. The participants described expectations of qualified adult health care but also concerns about the process and transfer to an unfamiliar setting. Individuals who were transferred described implemented or absence of preparations. Positive and negative experiences of adult health care were recounted including being treated as adults. The informants described increasing involvement in health care but were still supported by their parents. Ongoing follow up of health conditions was recounted but also uncertainty around the continuation, missing follow up and limited knowledge of how to contact health care. The participants recommended information ahead of transfer and expressed wishes for continued health care with regular follow up and accessibility to a contact person. Based on the participants' perspective, a transitional plan is required including early information about transfer and follow up to prepare the adolescents and reduce uncertainty concerning future health care. Meetings with the pediatric and adult team together with the patient and the parents are essential before transfer. Follow up should be centralized to centers with multi-professional teams well-experienced with the condition. Further studies are warranted to evaluate the transition process for adolescents and young adults with complex congenital health conditions.

Swedish parents' experiences of their role in treatment for children with congenital limb reduction deficiency: Decision-making and treatment support.

BACKGROUND: Parents of children with congenital limb reduction deficiency have an essential role in making treatment decisions during their child's first years of life. Treatment options usually concern surgical and/or prosthetic treatment. To tailor treatment options to fit different family values and priorities, the family-centred approach indicates the importance of understanding the parental role in partnership with health care professionals. The aim of this study was to describe parents' experiences of their role in decision-making and treatment for children with congenital limb reduction deficiency. METHODS: A descriptive design with a qualitative approach was used. Semi-structured interviews were conducted with 17 parents (12 mothers and 5 fathers) of children with upper and/or lower limb deficiency (mean age 5.9 years). The interview data were analysed using qualitative content analysis with an inductive approach. RESULTS: Two major themes emerged from the data. The first theme, being a decision maker for someone else, was described as an ambivalent parental role, including collaboration within the family and with health care professionals. The second theme, becoming and being a treatment supporter in the child's everyday life, was made up of four categories: being a supporter of the child in everyday activities, mentoring the child to handle encounters with others, becoming a coordinator of information and being an 'extended arm' of the health care provision for the child. CONCLUSIONS: This study enhances our understanding of the parental role in decision-making and treatment for children with congenital limb reduction deficiency. The results may contribute to the continued development of the family-centred service approach by providing guidelines for treatment programmes, with the goal of improving decision support and broadening the support for parents during treatment for these children.

Girolamo Fabrici d'Acquapendente and the Oplomochlion: The Several Applications of an Effective Rehabilitation Tool.

Girolamo Fabrici d'Acquapendente (1533-1619) was an Italian anatomist, surgeon and physiologist and a protagonist of the scientific revolution of the Renaissance. He made anatomy a scientific discipline and is justly considered a precursor of modern orthopaedics. He invented and used several external corrective devices for the treatment of congenital and acquired deformities of the limbs and spinal column, especially those following tubercular infection and rickets, torticollis, vertebral caries kyphosis, scoliosis, and rachitic deformities of the leg, but also congenital dislocation of the hip and congenital club-foot. He ascribed the pathogenesis of the equinovarus supinated foot to the position taken by the foot of the fetus during intrauterine life. The Oplomochlion, shown in the Operationes chirurgicae and attributed to Fabrici, is actually a collection of very diverse orthotic, prosthetic and surgical metal instruments invented by Fabrici and arranged with a demonstrative purpose and a topographic criterion, as if on an exhibition dummy.

Surgery and Conservative Management of Camptodactyly in Pediatric Patients: A Systematic Review.

Camptodactyly is a pediatric hand condition, the treatment of which remains controversial. The authors' aim was to improve patient care through clarifying the definition of camptodactyly and indications for surgical and/or conservative management, summarizing outcomes, and defining risks. A systematic review was conducted of articles in all languages on outcomes following surgical and/or conservative management of idiopathic camptodactyly in children using MEDLINE (Medical Literature Analysis and Retrieval System Online), PubMed, EMBASE (Excerpta Medica database), AMED (Allied and Complementary Medicine), and CINAHL (Cumulative Index of Nursing and Allied Health Literature) (until January 2017). The primary outcome was posttreatment flexion contracture, and the secondary outcomes were indications for surgery, complications, and patient satisfaction. Database searching generated 16 final articles, with 7 case series and 9 retrospective cohort studies. There was a lack of consistency on the definition of camptodactyly and in outcome reporting. All 16 studies received a "Weak" global rating and demonstrated low-quality evidence, suggesting that treatment of camptodactyly with operative or nonoperative measures reduces the degree of flexion contracture in most patients (from pretreatment averages of 20°-85° to posttreatment averages of 5°-37°). There was general agreement that surgery should be reserved for contracture >30° or failure to respond to conservative management. Surgery generally led to more complications compared with conservative management. Only one study reported on functional limitations, and another reported on patient-reported outcomes. Current evidence of the effectiveness of camptodactyly treatment in addressing both joint-specific deformity and patient-perceived function and appearance is insufficient to guide patient care. Future research may consider the development of decision aids to guide patients and families through selecting management strategies and to promote shared decision making.

Rabbit growth plate morphology in temporary bilateral blocking / Morfología de la placa de crecimiento de conejos durante bloqueo bilateral temporario

Blocking of the growth plate (GP) using plates with screws (tension band plating) is a modern method used to correct deformities and moderate leg length discrepancy in growing children. Determining the duration of temporary bilateral blocking without the occurrence of irreversible changes of GP is of paramount importance important. Methods: Two-month-old Californian breed male rabbits (n=30) were exposed to bilateral blocking of the distal GP of the right femur locking plates with screws for 3, 5, and 7 weeks. The fixators were removed after 5 and 7 weeks in 18 rabbits and 3 weeks after that, animals were sacri!ced. The contralateral limb was used as a control. Histological, histomorphometric, and X-ray analyses were performed. Results: During GP blocking, its height gradually decreased. This decreased was more pronounced after 7 weeks. Destructive changes progressed with an increase in the blocking duration. Three weeks after discontinuation of the bilateral blocking that lasted 5 weeks, the height of the GP signi!cantly increased 1.2 times on the lateral side and 1.9 times on the medial side (p<0.001) compared to the control. When blocking was discontinued after 7 weeks, the structure of the GP was partially restored after 3 weeks, the height of GP signi!cantly increased 1.2 times on the lateral side, and 1.07 times on the medial side (p<0.01) compared to the control. Conclusion: Restoration of the structuralfunctional features of the GP after the removal of the plates depends on the duration of temporary bilateral blocking, which must be taken into account in the clinical setting. (AU)

El bloqueo de la placa de crecimiento (PC) utilizando placas con tornillos (banda de tensión) es un método moderno utilizado para corregir deformidades y alteraciones moderadas en la longitud de las piernas en niños en crecimiento. Es de suma importancia determinar cuál debe ser la duración del bloqueo bilateral temporal sin que ocurran cambios irreversibles en la PC. Métodos: Conejos machos de raza californiana de dos meses de edad (n = 30) fueron expuestos al bloqueo bilateral de la PC distal colocando placas del fémur derecho con tornillos durante 3, 5 y 7 semanas. Los fijadores fueron retirados después de 5 y 7 semanas en 18 de los conejos, y 3 semanas después los animales fueron sacrificados. La extremidad contralateral se utilizó como control. Se realizaron análisis histológicos, histomorfométricos y de rayos X. Resultados: Durante el bloqueo de la PC, su altura disminuyó gradualmente. Esta disminución fue más pronunciada después de 7 semanas. Los cambios destructivos se incrementaron a medida aumentaba la duración del bloqueo. Tres semanas después de la interrupción del bloqueo bilateral que duró 5 semanas, la altura de la PC aumentó significativamente 1.2 veces en el lado lateral y 1.9 veces en el lado medial (p <0.001) en comparación con el control. Conclusión: La restauración de las características funcionales estructurales de la PC después de la extracción de las placas depende de la duración del bloqueo bilateral temporal, lo que debería tenerse en cuenta en el tratamiento clínico de estas alteraciones. (AU)

VACTERL association complicated with multiple airway abnormalities: A case report.

INTRODUCTION: VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Airway anomalies have rarely been reported with VACTERL association. PATIENT CONCERNS: A 10-month-old boy who had been diagnosed with anal atresia and received surgical corrections soon after birth consulted our institution by complaining repeated cough and fever. DIAGNOSIS: Diagnosis of VACTERL association was finally made. Bronchoscopy and chest CT with computed tomography angiography confirmed multiple airway abnormalities including bridging bronchus, airway malacia, and complete tracheal rings. INTERVENTIONS: Supplemental oxygen was provided and antibiotics was initiated. OUTCOMES: The patient resolved gradually and was discharged 10 days later. The follow-up showed the patient has remained well just with mild psychomotor retardation. CONCLUSION: Multiple airway anomalies may be seen in VACTERL association. It is worthwhile to make special note for evaluating the tracheobronchial pulmonary system by chest CT and bronchoscopy, especially patients presenting with breathing anomalies.

VACTERL Association with Situs Inversus Totalis: A Unique Combination.

BACKGROUND: VACTERL association is a sporadic, nonrandom series of congenital malformations diagnosed by the presence of three or more of the following: vertebral malformations, anal atresia, cardiac defects, tracheoesophageal fistula, renal malformations, and limb malformations. Situs inversus totalis (SIT) and esophageal malformations are rarely associated. This is the first reported case in North America of VACTERL association with SIT. IMPLICATIONS FOR PRACTICE: Respiratory distress in the term infant requires full exploration of all possible causes because the etiology may be far more complex than routinely diagnosed respiratory distress syndrome. This particular case demonstrates physical exam findings and supportive imaging that would be observed in infants with VACTERL association and with SIT, highlighting considerations when, rarely, both occur simultaneously.

From crisis to self-confidence and adaptation; Experiences of being a parent of a child with VACTERL association - A complex congenital malformation.

AIM: Knowledge is scarce regarding mothers' and fathers' experiences of being a parent of a child with VACTERL association-a complex malformation. The aim of the study was to describe experiences of being a parent of a child with VACTERL association. METHOD: Semi-structured interviews were performed with ten mothers and nine fathers face-to-face or by telephone and analyzed by using Qualitative content analysis. RESULTS: The parents described crisis reactions at the discovery of malformations in their child. Involvement in care was reported from the initial hospital admission until actively taking responsibility for treatments at home. Eventually the health condition became an integrated part of everyday life. The parents expressed the importance of meeting other families with a child with VACTERL. Descriptions were given of more or less professionalism with perceived discrepancies of knowledge and experience between the healthcare professionals in the tertiary hospital and those in the local hospital. Difficulties in receiving medical support during the initial period at home were described. Furthermore, emotional support and practical arrangements regarding parental accommodation and transportation varied. CONCLUSION: Being a parent of a child with VACTERL association involves crisis, mixed emotional reactions and shared responsibility for the child´s treatment and care with the professional care providers. Psychological processing, good medical care and support from experts, and peer support from other parents is essential in the parents' struggle to reach self-confidence and adaptation. A care plan with individualized tailored care for each child including a training and support plan for the parents is warranted. To reduce the described discrepancies in knowledge and experience between the local and tertiary hospital, video sessions with the parents and responsible professionals at the local and tertiary hospital could be an appropriate mode of transferring information at discharge and follow up of the child.

Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.

Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. It is characterized by brittle bones, fractures, spine and extremity deformity, and a host of extraskeletal manifestations. Type I collagen is present in bone, tendons, ligaments, skin, dentin, and the sclera of the eye and other connective tissues. Osteogenesis imperfecta includes a multitude of disease manifestations that may be present at birth or develop over time and vary depending on the severity of the disease. This article describes the disease presentation and management considerations from a pediatric orthopedic perspective.

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed. We subsequently chose to use the same pathogenesis-based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis-targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge. and anteverted nares. Here we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies.

Flexural Deformity of the Distal Interphalangeal Joint.

Flexural deformities in young horses are commonly referred to as contracted tendons, which is a term that is not consistent with what is currently understood about their cause. Flexural deformity of the distal interphalangeal joint can be either congenital (present at birth) or acquired (develop at a later stage of growth typically between 1 and 6 months of age). These 2 manifestations are commonly managed differently depending on the cause, age of onset, severity, duration, complicating factors, and owner expectations. Early recognition and appropriate intervention are essential to ensure that it is not performance limiting.

Angular Limb Deformities: Growth Augmentation.

Angular limb deformities are seen in young foals and are defined as lateral or medial deviations of the limb in the frontal plane distal to a particular joint. Several factors can contribute to the development of an angular limb deformity. Early assessment of the level of ossification of the cuboidal bones is critical to avoid complications long term. Although most deviations self-correct with minimal intervention other than modifications in exercise and hoof trimming, some require surgical intervention in the form of growth acceleration or retardation. This article focuses on growth augmentation techniques, such as hemicircumferential transection and elevation.

Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome.

Adams-Oliver syndrome is a rare disorder with varying degrees of scalp and cranial bone defects as well as limb anomalies, which can range from mild to more pronounced manifestations. In mild cases, closure of these defects can be achieved with a conservative approach. However, surgical closure is recommended in cases where the defect is extensive and includes cranial involvement. Several complicated cases of Adams-Oliver syndrome have been reported, in which flap failures were encountered and other alternatives had to be used to close critical scalp defects. Here, the case of a 4-year-old child with Adams-Oliver syndrome and a complex cranial defect with exposed titanium mesh is described. The patient was successfully treated with epidermal growth factor (EGF) infused foam dressings and subsequent split-thickness skin grafting. The EGF has been highlighted for its essential role in dermal wound repair through the stimulation of the proliferation and migration of keratinocytes, and showed accelerated wound healing when used in partial or full-thickness skin wounds.

Plastic bronchitis: a rare complication of long-term haemodialysis catheter placement in a child.

BACKGROUND: Despite peritoneal dialysis being the preferred mode of renal replacement therapy in neonates and infants, long-term haemodialysis may be necessary in a minority of patients with its attendant risks. CASE DIAGNOSIS/TREATMENT: This case identifies plastic bronchitis as a rare yet serious complication of long-term large bore vascular access when a vessel-sparing approach is not possible. CONCLUSIONS: An appropriately sized catheter should be used for the dialytic therapy required and to optimize access survival.

Flexural Limb Deformities of the Carpus and Fetlock in Foals.

Early recognition and treatment of congenital and acquired flexural deformities of the carpi and fetlocks of foals can lead to conformation correction and an athletic future. Treatment is often based on rigid external coaptation assisted by systemic medical treatment. Foals that readily respond to treatment and correct conformation faults can have normal adult athletic expectations.

Routine Trimming and Therapeutic Farriery in Foals.

Hoof care in the first few months of life is serious business and should never be taken lightly. Farriery plays a vital role in both the development of the hoof and the conformation of the limb. Management of the feet and limbs during this period will often dictate the success of the foal as a sales yearling or mature sound athlete. A sound foot care program is time-consuming, whereas assembly-line trimming is quick and easy, but the former is much more beneficial.

FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study.

FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies.

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. The phenotype was variable with absence of seizures in 2 sisters in family 1 and 1 infant in family 2 and seizures with pronounced happy affect in 3 sisters in family 3. The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. With such phenotypic variability, the diagnosis of PGDH deficiency can be challenging.