A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Homozygous variants in FLNB are known to cause SCT. This study was aimed to investigate the phenotypic and genetic basis of unique presentation of SCT syndrome segregating in a consanguineous Pakistani family. Three of the four affected siblings evaluated had severe short stature, short trunk, short neck, kyphoscoliosis, pectus carinatum, and winged scapula. The subjects had difficulty in walking and gait problems and complained of knee pain and backache. Roentgenographic examination of the eldest patient revealed gross anomalies in the axial skeleton including thoracolumbar and cervical fusion of ribs, severe kyphoscoliosis, thoracic and lumbar lordosis, coxa valga, fusion of certain carpals and tarsals, and clinodactyly. The patients had normal faces and lacked other typical features of SCT like cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Whole exome sequencing (WES) of two affected siblings led to the discovery of a rare stop-gain variant c.220C>T (p.(Gln74*)) in exon 1 of the FLNB gene. The variant was homozygous and segregated with the malformation in this family. This study reports extensive phenotypic variability in SCT and expands the mutation spectrum of FLNB.

[Secondary surgical procedures following motor nerve injuries]. / Sekundäre operative Verfahren bei Verletzungen motorischer Nerven.

BACKGROUND: The functional deficits that develop after a peripheral nerve injury mean a considerable reduction in the quality of life for the affected patients. However, interventions on the injured nerve are not always possible or effective. In this case, secondary procedures, e.g. tendon transfers, are a feasible option for functional reconstruction. OBJECTIVES: An overview of the most common secondary surgical procedures for functional reconstruction after peripheral nerve injuries. METHODS: Presentation and discussion of the most common secondary surgical procedures with emphasis on tendon transfers. Illustration of the primary functions that need to be reconstructed depending on the respective nerve lesion. RESULTS: The basic principle of secondary surgical procedures after nerve injuries is the transposition of a healthy tendomuscular unit to replace a lost function following a loss of muscle or tendon or if an intervention on the nerve is not promising. For example, by transferring flexor forearm muscles, wrist, finger and thumb extension can be reconstructed after radial nerve injury. By transposing the tibialis posterior muscle, dorsiflexion in the talocrural joint can be restored to enable the affected patient to walk safely without an orthosis. CONCLUSIONS: Secondary surgical procedures are a valuable option for functional reconstruction after nerve injury.

WINGED SCAPULA CAUSED BY PARSONAGE-TURNER SYNDROME AFTER BNT162B2 MRNA COVID-19 VACCINATION.

A 45-year-old Japanese woman presented with difficulty moving her left shoulder. Ten months previously, the day after she had received her second dose of the BNT162b2 mRNA COVID-19 vaccine, a severe stabbing pain occurred in her entire left upper extremity. The pain resolved within 2 weeks, although she developed difficulty moving her left shoulder. A left winged scapula was observed. Electromyography showed left upper brachial plexopathy with acute axonal involvement and abundant acute denervation potentials, consistent with Parsonage-Turner syndrome (PTS). PTS should be considered in patients with post-neuralgic motor paralysis of the unilateral upper extremity, which can occur after COVID-19 vaccination. LEARNING POINTS: Parsonage-Turner syndrome (PTS), also referred to as idiopathic brachial plexopathy or neuralgic amyotrophy, is characterized by acute onset of unilateral upper extremity pain.PTS often results in a winged scapula due to paralysis of the long thoracic nerve.PTS should be considered in patients with post-neuralgic motor paralysis of the unilateral upper extremity, which can occur after COVID-19 vaccination.

Scapula alata: Diagnosis and treatment by nerve surgery and tendon transfers.

Scapula alata, also known as winged scapula, can lead to severe upper limb impairment. The shoulders' function is altered because the scapula, which supports the upper limb, is no longer stable. Typical scapula alata is described for serratus anterior palsy; however, any scapulothoracic muscle impairment may lead to scapular winging, particularly trapezius palsy, which is easy to miss, thus needed to be considered as a differential diagnosis. The diagnosis is difficult and based on various clinical tests and a thorough examination as well as electroneuromyography and MRI. The treatment ranges from conservative treatments for spontaneous recovery, nerve surgery including neurolysis, nerve transfers and nerve grafts for acute cases, to tendon transfers for more chronic cases and when nerve procedures are no longer feasible. Tendon transfers in serratus anterior palsy produce excellent results with a high rate of patient satisfaction and are described with the sternal or clavicular head of the pectoralis major; we describe our preferred technique in this article. Tendon transfers in trapezius palsy are performed with the levator scapulae, rhomboid minor and major muscles. Our preferred method is the Elhassan triple transfer. Scapula alata is a frequent and often misdiagnosed condition. Appropriate management can yield excellent results. Patients should be referred right away to specialized centers for surgery if recovery is not spontaneous.

Diagnosis and epidemiology of winged scapula in breast cancer patients: A systematic review and meta-analysis.

BACKGROUND: Winged scapula (WS) is a critical complication of axillary surgery in patients treated for breast cancer, and is associated with pain, impairment of the upper extremity's function and poor performance in daily activities. SOURCES OF DATA: A systematic review and meta-analysis were performed following the PRISMA guidelines. Two independent reviewers searched PubMed, Embase and Virtual Health Library databases from January 1, 2000 to December 1, 2020. Clinical studies evaluating the diagnosis and epidemiology of WS among breast cancer surgery (BCS) patients were included. AREAS OF AGREEMENT: The diagnosis of WS relies almost entirely on physical assessment. Studies have suggested a high variability in the report of the incidence of WS given the subjectivity of its diagnosis, and the different criteria used during clinical assessment. AREAS OF CONTROVERSY: The diagnosis of WS in BCS patients remains a challenge given the lack of standardized diagnostic protocols. Physical examination cannot rely on one manoeuvre only, as it may overlook patients with subtle injuries or overweight and contributing to the underreporting of its incidence. GROWING POINTS: BCS patients undergoing axillary lymph node dissection experience a significantly higher incidence of WS than those undergoing sentinel lymph node dissection. The global incidence of WS after BCS is 16.79%. Additionally, the anterior flexion test and the push-up test are the most commonly performed diagnostic manoeuvers. AREAS TIMELY FOR DEVELOPING RESEARCH: Further studies should aim for objective diagnostic tests, especially when the condition is not evident.

Iatrogenic injury to long thoracic nerve following thoracotomy for right thoracic scoliosis in Marfan syndrome: a case report.

BACKGROUND: Patients with Marfan syndrome commonly require spinal deformity surgery. The purpose of this case report is to present a rare thoracotomy complication. We present the management of such a patient. In a known case of Marfan syndrome, an 18-year-old Persian man was admitted to our hospital with scoliosis. The patient underwent radiological examinations, and thoracic scoliosis of 70° was diagnosed. A right thoracotomy for anterior spinal fusion from the sixth rib and posterior spinal fusion were performed successfully. Two months later, he was readmitted because of winging of the right scapula due to serratus anterior palsy. Electromyography and nerve conduction velocity confirmed long thoracic nerve injury. Conservative treatment was provided. Ultimately, the patient recovered completely in the last follow-up visit 6 months after the surgery. DISCUSSION: This is the first report of ipsilateral winged scapula after thoracotomy. Attention needs to be paid to surgical techniques in patients with Marfan syndrome.

Scapulothoracic fusion using nonabsorbable suture fixation: surgical technique and review of the literature.

Background: Historically, scapulothoracic fusion (STF) is performed using steel wire and plate construct fixation. The purpose of this study is to report a recent fusion achieved through ultra-high-molecular-weight polyethylene-reinforced suture fixation as well as to perform a systematic literature review of techniques, fusion rates, complications, and reoperation. Methods: Patient data were gathered from chart review and clinical encounters. For the review, MEDLINE, Embase, and Ovid databases were queried for STF cases. Thirty articles reporting on 386 fusion procedures were included. Results: Including this patient, 5 of 387 (1.3%) STFs have been attempted with fiber suture. Fusion rates of metal-only constructs is 90.8% (346 of 381) with 11.3% (43 of 381) requiring wire removal or trimming because of symptomatic hardware and 7% (27 of 381) causing a postoperative pneumothorax. Although a small sample size, all fiber-suture constructs have achieved union without implant removal and without pneumothorax development. In this patient, fusion was determined radiographically at 6 months with substantial improvement in pain level and function. Conclusion: Scapulothoracic fusion has benefit to patients to have failed other management options for winged scapula, most commonly those with neurologic trauma or facioscapulohumeral muscular dystrophy. With advancements in surgical options, fiber-suture offers an alternative to steel wire to achieve fusion. Further cases with longer term follow-up are needed to determine if significant differences in outcomes exist between constructs.

Current concepts review: peripheral neuropathies of the shoulder in the young athlete.

Peripheral neuropathies of the shoulder and upper extremity are uncommon injuries that may affect the young athletic population. When present, they can result in significant pain and functional impairment. The cause of peripheral neuropathy in young athletes may be an acute, traumatic injury such as a shoulder dislocation or a direct blow to the shoulder girdle. Alternatively, repetitive overuse with resultant compression or traction of a nerve over time may also result in neuropathy; overhead athletes and throwers may be particularly susceptible to this mechanism of nerve injury. Regardless of etiology, young athletes typically present with activity-related pain, paresthesias, and dysfunction of the affected upper extremity. In addition to physical examination, diagnostic studies such as radiographs and magnetic resonance imaging (MRI) are commonly performed as part of an initial evaluation and electrodiagnostic studies may be used to confirm the diagnosis of peripheral neuropathy. Electrodiagnostic studies may consist of electromyography, which evaluates the electrical activity produced by skeletal muscles, and/or a nerve conduction study, which evaluates a nerve's ability to transmit an electrical signal. Although data are not robust, clinical outcomes for young patients with activity-related peripheral neuropathies of the shoulder are generally good, with most young athletes reporting both symptomatic and functional improvement after treatment.

Minimally invasive cervical micro-endoscopic foraminotomy for C6 radiculopathy with overlooked scapular winging - A case report.

A 73-year-old woman complained of right medial side of scapular pain associated with winged scapula to miss without observing the back in minute detail. Additional treatment was required due to overlooking caused by insufficient examination. We performed micro-endoscopic foraminotomy that provided the disappearance of scapular pain and improvement of winged scapula in relatively early. It was commonly said that winged scapula is an extremely rare condition that causes dysfunction of the upper extremities. We suggest that there are the meaning of winged scapula in diagnosis and the importance of physical examination. Further studies should be required to research the morbidity of winged scapula associated with cervical disease. By sharing our experience of this attention arousing case, we provide information not to repeat the same mistakes. J. Med. Invest. 66 : 340-343, August, 2019.

Secuelas morfo-funcionales en mujeres operadas de cáncer de mama en las regiones de la Araucanía y del Bío-Bío, Chile / Morphofunctional consequences in women operated for breast cancer of the region of Araucanía and Bío-Bío, Chile

El tratamiento quirúrgico del cáncer de mama puede dejar secuelas tardías tales como escápula alada, pérdida de movilidad articular del hombro, sobrepeso, etc. Basado en lo anterior, el objetivo del presente estudio fue describir las secuelas morfofuncionales en mujeres operadas de cáncer de mama de las regiones de la Araucanía y del Bío-Bío, Chile, explorando también si el procedimiento quirúrgico conllevaría a la presencia de escápula alada. Para ello, se realizó un estudio cuantitativo, observacional y de corte transversal en treinta mujeres operadas de cáncer de mama, de edades comprendidas entre 28 y 76 años (55,67±11,60). Un profesional entrenado evaluó peso, estatura, índice de masa corporal (IMC), índice de cintura cadera (ICC), rangos articulares de hombro (ROM, Range of Movement) y fuerza prensil, aplicándose además la prueba de Hoppenfeld para identificar escápula alada. Los resultados mostraron diferencias significativas en el ROM a la abducción de hombro (p<0,05), correlación significativa positiva de leve (r=0,370) a moderada (r=0,514) entre el ROM del lado afectado tanto para la flexión como la abducción con la fuerza prensil. Destacan, un IMC de 28,91±5,31 kg/m2, un ICC de 0,86±0,06 cm y la presencia de escápula alada en el 36,7 % de las participantes. No se encontró asociación entre el abordaje quirúrgico y la presencia de escápula alada. Hubo secuelas morfo-funcionales en las mujeres en estudio, destacándose las alteraciones en el rango de movimiento del miembro superior, sobrepeso, riesgo cardiovascular y la presencia de escápula alada, sin asociarse al tipo de abordaje quirúrgico.

Surgical treatment of breast cancer can leave late sequelae such as winged scapula, loss of joint mobility of the shoulder, overweight, etc. Based on the above, the objective of the present study was to describe the morpho-functional sequelae in women operated on for breast cancer from the regions of Araucanía and Del BíoBío, Chile, also exploring whether the surgical procedure would lead to the presence of scapula winged. For this, a quantitative, observational and cross-sectional study was conducted in thirty women operated on for breast cancer, aged between 28 and 76 years (55.67 ± 11.60). A trained professional evaluated weight, height, body mass index (BMI), hip waist index (ICC), shoulder joint ranges(ROM, Range of Movement) and prehensile strength, and applied the Hoppenfeld test to identify the winged scapula. The results showed significant differences in the ROM to shoulder abduction (p <0.05), positive significant correlation of mild (r = 0.370) to moderate (r = 0.514) between the ROM of the affected side for both flexion and abduction with prehensile force. Highlights, a BMI of 28.91 ± 5.31 kg / m2, an ICC of 0.86 ± 0.06 cm and the presence of winged scapula in 36.7 % of the participants. No association was found between the surgical approach and the presence of the winged scapula. There were morphofunctional sequelae in the women under study, highlighting the alterations in the range of movement of the upper limb, overweight, cardiovascular risk and the presence of the winged scapula, without being associated with the type of surgical approach.

[Parsonage-Turner syndrome: Unknown but not infrequent. Apropos of 6 cases]. / Síndrome de Parsonage-Turner: desconocido pero no infrecuente. A propósito de 6 casos.

Shoulder pain is a common reason for seeking emergency, primary and specialist care. Parsonage-Turner syndrome should form part of the differential diagnosis of shoulder pain. Familiarity with the clinical and electrophysiological characteristics of this syndrome could help prevent iatrogenic disease. We present 6 cases of Parsonage-Turner syndrome, a syndrome of unknown etiology with a typical clinical picture. All patients had acute onset of the syndrome with intense shoulder pain of approximately 3 weeks' duration. After this phase ended, there was noticeable weakness of the affected arm, causing muscular atrophy depending on the muscles affected by the neuropathy. Winged scapula was present in all patients. One patient showed alteration of sensitivity and another showed hemidiaphragmatic paralysis. After a complete physical examination, the patients underwent electromyographic study that confirmed the diagnosis. Analgesic treatment and rehabilitation were prescribed.

Electromyographic activity of the serratus anterior and pectoralis major during isometric scapular protraction at different resistance intensities in subjects with and without a winged scapula.

BACKGROUND: During maximal isometric protraction, it is important to determine the optimal resistance intensity in subjects with a winged scapula, for inducing isolated activity of the serratus anterior against the pectoralis major, which is activated as a synergistic muscle. The aim of the present study was to determine electromyographic activities of the serratus anterior and pectoralis major muscles during isometric shoulder protraction at different levels in subjects with and without a winged scapula. METHODS: Thirty male subjects performed isometric shoulder protraction in a sitting position at different resistance intensity levels (100%, 80%, and 60% of maximal protraction strength). Surface electromyographic data of the serratus anterior and pectoralis major muscles were gathered simultaneously using fixed instrumentation to measure isometric shoulder protraction. FINDINGS: Muscle activity of the serratus anterior in subjects without a winged scapula was significantly greater than that of subjects with a winged scapula across all three conditions, whereas muscle activity of the pectoralis major was lower in subjects without a winged scapula. In addition, winged scapula muscle activity corresponding to maximal protraction was significantly greater than that in the submaximal condition. INTERPRETATION: In a clinical setting, submaximal resistance can be more optimal than maximal effort during isometric shoulder protraction in individuals with a winged scapula.

Unilateral winged scapula: Clinical and electrodiagnostic experience with 128 cases, with special attention to long thoracic nerve palsy.

INTRODUCTION: In this study we report a large series of patients with unilateral winged scapula (WS), with special attention to long thoracic nerve (LTN) palsy. METHODS: Clinical and electrodiagnostic data were collected from 128 patients over a 25-year period. RESULTS: Causes of unilateral WS were LTN palsy (n = 70), spinal accessory nerve (SAN) palsy (n = 39), both LTN and SAN palsy (n = 5), facioscapulohumeral dystrophy (FSH) (n = 5), orthopedic causes (n = 11), voluntary WS (n = 6), and no definite cause (n = 2). LTN palsy was related to neuralgic amyotrophy (NA) in 61 patients and involved the right side in 62 patients. DISCUSSION: Clinical data allow for identifying 2 main clinical patterns for LTN and SAN palsy. Electrodiagnostic examination should consider bilateral nerve conduction studies of the LTN and SAN, and needle electromyography of their target muscles. LTN palsy is the most frequent cause of unilateral WS and is usually related to NA. Voluntary WS and FSH must be considered in young patients. Muscle Nerve 57: 913-920, 2018.

Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

Ohdo syndrome-Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 ( MED12 ) gene. Here we report a familial OSMKB type with two affected siblings and mutation in MED12 gene.

Isolated serratus palsy etiology influences its long-term outcome.

HYPOTHESIS AND BACKGROUND: The cause of isolated serratus palsy is multifactorial, but evaluation of the mechanism of the injury indicates that the lesion to the long thoracic nerve is mechanical in origin in most cases. What is unknown, however, is how etiology influences its long-term outcome. We believed that overuse injuries may recover sooner and better than acute traumatic, infectious, or inflammatory injuries. METHODS: We determined the presumed etiology of isolated serratus palsy in 92 patients treated by brace or observation only and compared it with its long-term outcome after a mean follow-up of 18.1 years (range, 2.1-26.9) by measuring pain, range of motion, and winging of the scapula. RESULTS: Trauma preceded 22 (24%) of the cases, exertion 37 (40%), infection 14 (15%), and surgery/anesthesia 10 (11%). In 9 (10%) cases, no etiologic factor was evident. Serratus palsy preceded by infection recovered better than did cases with no infection, and those with palsy preceded by surgery/anesthesia had a poorer outcome than did those with no surgery (axilla, chest, or any other areas) or anesthesia. Those palsies caused by acute trauma or acute or chronic overuse/exertion had the same recovery course. DISCUSSION AND CONCLUSION: Etiology of isolated serratus palsy influenced long-term outcome less than we had expected. It seems, however, that palsies caused by infection recover better and those caused by surgery wherever in the body recover most poorly.

Intercostal Nerve to Long Thoracic Nerve Transfer for the Treatment of Winged Scapula: A Cadaveric Feasibility Study.

There are very few surgical options available for treating a patient with winged scapula caused by a long thoracic nerve (LTN) injury. Therefore, we devised a novel technique based on a cadaveric dissection whereby regional intercostal nerves (ICN) were harvested and transposed to the adjacent LTN in 10 embalmed cadavers (20 sides). The LTN was identified along the lateral border of the serratus anterior and ICNs were identified at the mid-axillary line inferior to the lower edge of the pectoralis major muscle. Along the mid-clavicular line, each ICN was transected and transposed to the adjacent LTN. The length and diameter of each ICN available for mobilization to the LTN were measured. All measurements were made with microcalipers. Within the operative site, the mean proximal and distal diameters of the LTN were 1.6 and 1.1 mm, respectively. The adjacent ICN had a mean diameter of 1.3 mm. On all sides, the ICN branches were easily transposed to the adjacent LTN without any tension. Anastomosis to the LTN was performed to the third through sixth ICN provided each intercostal was preserved and mobilized anteriorly at least as far as the midclavicular line. The end to end size match between donor and LTN was appropriate on all sides. We found that it is feasible to harvest adjacent ICNs and move these to the adjacent LTN. Such a procedure, after being confirmed in patients, might offer a new technique for restoring protraction following an LTN injury.

Winged Scapula: A Comprehensive Review of Surgical Treatment.

Winged scapula is caused by paralysis of the serratus anterior or trapezius muscles due to damage to the long thoracic or accessory nerves, resulting in loss of strength and range of motion of the shoulder. Because this nerve damage can happen in a variety of ways, initial diagnosis may be overlooked. This paper discusses the anatomical structures involved in several variations of winged scapula, the pathogenesis of winged scapula, and several historical and contemporary surgical procedures used to treat this condition. Additionally, this review builds upon the conclusions of several studies in order to suggest areas for continued research regarding the treatment of winged scapula.

A Rare Long-term Complication of Physical Torture.

The allegations made against custodians regarding ill treatments have been increased in Sri Lanka. However, their attention is grabbed by the immediate complications of torture, but not by late or delayed complications. A 35-year-old male was arrested for alleged housebreaking and kept under police custody. He alleged that he was hanged with his hands on several occasions. Six weeks after the incident, he presented to a tertiary care hospital with the weakness of his right shoulder. Examination revealed hyperpigmented scars over the left wrist and back of the left forearm with the right-sided medial winging of the scapula. He alleged that it had affected his day-to-day life. The presence of hyperpigmented scars over the left wrist and the long-term complications such as winged scapula of the right shoulder corroborated with the alleged history of torture by suspension from the wrists.

Reproducibility of isometric shoulder protraction and retraction strength measurements in normal subjects and individuals with winged scapula.

BACKGROUND: The strength of the shoulder protractors and retractors may be compromised in individuals with winged scapula (IwWS). However, no standard approach to measuring the strength of these muscles has been described. The aim of this study was to study the intra-rater and inter-rater reproducibility of a fixed-base isometric dynamometer and to describe cutoff scores for clinically meaningful change for protraction and retraction isometric strength. METHOD: Twice during a week, 20 normal subjects and 20 IwWS were tested by 2 independent raters. RESULTS: IwWS were significantly weaker (P < .001) than control subjects in their protraction and retraction isometric strength. Excellent intra-rater and inter-rater correlations were obtained in most combinations, leading to low cutoff scores for meaningful change expressed in terms of the smallest real difference. CONCLUSION: When it is properly used, the technique described in this paper is recommended as an effective clinical tool for the quantitative assessment of protraction and retraction isometric strength, both for status determination and for monitoring of change in IwWS during and after rehabilitation.