Experimental Studies of Latissimus Dorsi Detrusor Myoplasty for Bladder Acontractility: A Systematic Review.

Current therapies that allow patients with bladder acontractility to void are limited. The standard therapy is clean intermittent catheterization. Latissimus dorsi detrusor myoplasty (LDDM) has been shown to provide functional contraction and allow patients with bladder acontractility to void voluntarily. Our goal was to summarize experimental studies of LDDM. We hypothesized that experimental studies would show that latissimus dorsi muscle (LDM) flaps for detrusor myoplasty have superior outcomes when compared with other types of flaps. On January 17, 2020, we conducted a systematic review of the PubMed/MEDLINE, Cochrane Clinical Answers, Cochrane Central Register of Controlled Trials, and EMBASE databases, without time frame limitations, to identify articles on the use of LDDM. We excluded studies that investigated other treatments. Of 54 articles identified by the search, three fulfilled the eligibility criteria. A total of 24 dogs underwent procedures and were evaluated with a maximum follow-up of 9 months. Three types of procedures were performed: LDM in situ reconfiguration, LDM myoplasty, and augmentation cystoplasty after supratrigonal cystectomy. Electrical stimulation, cystography, urodynamic and hydrodynamic measurements, and microscopic examinations were performed. Innervated LDM flaps transferred to the bladder were able to contract and promote voiding in response to electrical stimulation. Experimental studies have shown the feasibility of LDDM in canine models. Although no comparison groups were included, innervated LDM flap transferred to the bladder showed promising results regarding contraction capable of voiding.

Floppy eyelid syndrome "plasty" procedure: Employment of a periosteal transposition flap for surgery of floppy eyelid syndrome.

IMPORTANCE: Floppy eyelid syndrome "plasty" (FESplasty) is a surgical technique that addresses underlying superior tarsal plate and lateral canthal instability in floppy eyelid syndrome (FES) and aims to restore normal anatomical and physiological function to the upper eyelid. BACKGROUND: To describe the use of FESplasty in the surgical management of FES, and to report outcomes in an initial patient cohort. DESIGN: Retrospective study. PARTICIPANTS: Seven patients (nine eyelids) with FES undergoing FESplasty. METHODS: A single surgeon (G.W.) performed all procedures. FESplasty utilizes a periosteal flap based at the inferolateral orbital rim, and applied to the anterior surface of the upper tarsal plate. It is combined with a titrated shortening procedure of the upper eyelid. Patient demographics, comorbidities and ocular symptoms and signs were recorded preoperatively. Pre- and postoperative upper eyelid distractibility were graded and documented. MAIN OUTCOME MEASURES: Postoperative improvement in upper eyelid distractibility and symptomatology, operative complications and FES recurrence. RESULTS: FES symptoms and upper eyelid laxity improved at last follow-up (average 24 weeks) in all patients, with no FES recurrences after a maximum follow-up of 36 weeks. One patient, in whom FESplasty exacerbated his pre-existing aponeurotic ptosis, required definitive ptosis surgery subsequently. There was one case of postoperative wound infection. Obstructive sleep apnoea was present in four of the seven patients. The remaining three patients were awaiting assessment. CONCLUSIONS AND RELEVANCE: FESplasty is likely to confer long-term effective stabilization of the lateral canthal tendon, lateral commissure and superior tarsal plate. Anatomical and functional results appeared to have been successfully achieved.

Anesthetic Management of a Patient With Emanuel Syndrome.

Emanuel syndrome is associated with supernumerary chromosome, which consists of the extra genetic material from chromosome 11 and 22. The frequency of this syndrome has been reported as 1 in 110,000. It is a rare anomaly associated with multiple systemic malformations such as micrognathia and congenital heart disease. In addition, patients with Emanuel syndrome may have seizure disorders. We experienced anesthetic management of a patient with Emanuel syndrome who underwent palatoplasty. This patient had received tracheotomy due to micrognathia. In addition, he had atrial septal defect, mild pulmonary artery stenosis, and cleft palate. Palatoplasty was performed without any complication during anesthesia. Close attention was directed to cardiac function, seizure, and airway management.

Tracheostomy in neurologically compromised paediatric patients: role of starplasty.

OBJECTIVES: Starplasty tracheostomy is an alternative to traditional tracheostomy. This paper reviews neurologically compromised paediatric patients with tracheostomies and discusses the role of starplasty tracheostomy. METHOD: A retrospective review was conducted of paediatric patients with a neurological disorder who underwent tracheostomy between 1997 and 2011. RESULTS: Forty-eight patients, with an average age of 7.3 years, were identified. The most common indications for tracheostomy were: ventilator dependence (39.6 per cent), an inability to tolerate secretions or recurrent aspiration pneumonia (33.3 per cent), and upper respiratory obstruction or hypotonia (12.5 per cent). The most common underlying neurological diagnosis was cerebral palsy. There were no early complications. Eighteen (43 per cent) of 42 patients with follow up experienced at least 1 delayed complication. Only 12 patients (28.6 per cent) were decannulated. CONCLUSION: Patients with primary neurological diagnoses have low rates of decannulation; starplasty tracheostomy should be considered for these patients. Patients with seizure disorder or acute neurological injury tended to have a higher short-term decannulation rate; traditional tracheostomy is recommended in these patients.

Usefulness of Noninvasive Positive-pressure Ventilation During Surgery of Flaccid Neuromuscular Scoliosis.

STUDY DESIGN: This is a retrospective study. OBJECTIVE: To assess the effects of noninvasive positive-pressure ventilation (NIPPV) through evaluations of outcomes and incidences of postoperative pulmonary complications among patients with flaccid neuromuscular scoliosis for pulmonary support in the perioperative periods. BACKGROUND DATA: There is no report on the effects of NIPPV on neuromuscular scoliosis patient during the perioperative periods. METHODS: We retrospectively reviewed 73 patients diagnosed with neuromuscular scoliosis who underwent staged anterior and posterior spinal surgery and instrumentations for deformity correction from 2003 to 2010. A total of 73 patients were divided depending on whether they had received NIPPV treatment or not during the perioperative period. Twenty-eight patients who received NIPPV for respiratory support and 45 patients with no mechanical ventilation were compared according to age, sex, body mass index, number of fusion levels, and end-tidal pressure of CO(2) and forced vital capacity values. The incidence of pulmonary complications associated with either group (pneumonia, atelectasis, pneumothorax, prolonged ventilator support, and postoperative tracheostomy) was then evaluated. RESULTS: In between the 2 groups, the forced vital capacity (41% vs. 64%, P<0.0001) were observed to be significantly decreased with the use of NIPPV. End-tidal pressure of CO(2) was not statistically different between the 2 groups. Although statistically not significant, patients in the non-NIPPV group had a higher incidence of pulmonary complications (38% vs. 21%, P=0.1584). None of the aforementioned patients required tracheostomy. In addition, no other mortality or neurological complications were noted postoperatively. CONCLUSIONS: There is a definite advantage of using NIPPV, because the incidence of postoperative pulmonary complications and the need for tracheostomy in patients with severely decreased pulmonary function are not increased from the use of NIPPV.

Anesthetic management of pediatric patients with Emanuel syndrome.

Emanuel syndrome is a rare anomaly associated with multiple systemic malformations. We present two cases involving pediatric patients with Emanuel syndrome. The first patient presented with micrognathia and had patent ductus arteriosus and a single kidney. The patient was difficult to intubate with McGRATH(®) but was successfully intubated with an Airtraq(®) device. The second patient did not present with micrognathia and was not difficult to intubate. A thorough examination of the heart, kidney, and spinal cord is important when planning the anesthetic management of patients with Emanuel syndrome. Moreover, adequate preparation for a difficult airway is essential, and the Airtraq(®) device may be useful for intubating patients with Emanuel syndrome with micrognathia.

Laryngotracheal reconstruction outcomes in hypotonic children.

IMPORTANCE: Children with poor muscle tone may demonstrate upper airway obstruction due to several mechanisms including obstructive sleep apnea, laryngopharyngeal reflux, and laryngomalacia. Though hypotonia has been shown to compromise the pediatric airway, and some authors suggest that neurologic deficits can compromise the success of laryngotracheal reconstruction (LTR), to our knowledge no studies have evaluated the effect of neurologic diagnoses or hypotonia on outcomes in LTR. OBJECTIVE: To determine whether hypotonic children with subglottic stenosis have lower rates of successful decannulation after LTR compared with children without neurologic deficit. DESIGN, SETTING, AND PARTICIPANTS: A retrospective medical chart review was conducted for 27 children aged 0 to 6 years, who underwent LTR for subglottic stenosis between December 2007 and December 2012 at a tertiary care children's hospital. Children were classified based on documented neurologic findings. Group 1 comprised those children without neurologic impairment (n = 16). Group 2 included those children with a documented neurocognitive or neuromuscular diagnosis but without evidence of hypotonia (n = 7). Group 3 comprised hypotonic children (n = 4). INTERVENTIONS Laryngotracheal reconstruction. MAIN OUTCOMES AND MEASURES: The number of procedures performed after LTR to optimize the airway and whether the child was successfully decannulated. RESULTS: All 16 of the neurologically intact patients (100%) were decannulated. Among children with a neurologic deficit, 5 of 7 (71%) were ultimately decannulated. No hypotonic children 0 of 4 were decannulated. The difference in rates of decannulation between unaffected and normotonic children with a neurologic deficit was not statistically significant (P = .08). However, the difference in outcomes between hypotonic children and neurologically intact patients was statistically significant (P < .001). CONCLUSIONS AND RELEVANCE: Findings from this study suggest that hypotonic children may experience poorer rates of post-LTR decannulation compared with children without neurologic deficit. Dynamic upper airway obstruction may be unappreciated in hypotonic children. Future research may be directed at the appropriate evaluation and treatment of children with poor muscle tone and subglottic stenosis.

Floppy eyelid associated with Down syndrome.

Eyelid laxity due to Down Syndrome may be better classified under the rubric of lax eyelid conditions.

[MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature]. / Deficiencia del transportador celular de hormona tiroidea MCT8: caso clinico y revision de la bibliografia.

INTRODUCTION: MCT8 is a specific transporter for the T4 and T3 thyroid hormones that allows their entry in the brain and other organs. Mutations in MCT8 (Allan-Herndon-Dudley syndrome) lead to a severe form of X-linked psychomotor retardation, which is characterised by elevated plasma T3 and low T4. AIM: We describe the first case diagnosed in Spain with this syndrome and review the published literature about this topic. We both review the various clinical presentations, genetic advances, differential diagnosis and therapeutic perspectives of this syndrome and propose a diagnostic algorithm for it. CASE REPORT: A 5 year-old boy, with a clinical picture compatible with Pelizaeus-Merzbacher disease. PLP1 gene sequencing showed no abnormalities. All the genetic and metabolic studies conducted were normal. Finally, a complete study of thyroid profile revealed abnormalities that were consistent with MCT8 transporter deficiency. The sequencing of the SLC16A2 gene (MCT8) showed a mutation in exon 3 and the study made at a cellular level, has confirmed that this mutation changes the properties of the protein. CONCLUSIONS: In the last five years, there have been many publications about this syndrome, with the identification of more than 50 families worldwide. It is important to both know and suspect this syndrome, because the diagnosis is easy, cheap and accessible (thyroid profile) and, although it has no specific treatment, early diagnosis prevents unnecessary testing and allows to offer genetic counseling to the families affected by it.

TITLE: Deficiencia del transportador celular de hormona tiroidea MCT8: caso clinico y revision de la bibliografia.Introduccion. El MCT8 es un transportador especifico para las hormonas tiroideas T4 y T3, que permite su entrada en el cerebro y otros organos. La deficiencia de MCT8, o sindrome de Allan-Herndon-Dudley, es un trastorno ligado a X que, generalmente, se presenta como un cuadro neurologico grave de inicio precoz, con un perfil tiroideo caracteristico (aumento de T3 y disminucion de T4 y rT3). Objetivo. Se presenta el primer caso diagnosticado en España con este sindrome y se revisa la bibliografia publicada, las distintas formas de presentacion clinica, los avances geneticos, el diagnostico diferencial y las perspectivas terapeuticas, y se propone un algoritmo diagnostico. Caso clinico. Varon de 5 años con un cuadro clinico compatible con una enfermedad de Pelizaeus-Merzbacher. La secuenciacion del gen PLP1 no mostro alteraciones. Todos los estudios metabolicos y geneticos realizados fueron normales. Finalmente, un estudio completo del perfil tiroideo revelo alteraciones compatibles con una deficiencia del transportador MCT8. La secuenciacion del gen SLC16A2 (MCT8) mostro una mutacion en el exon 3 y el estudio celular confirmo que esta mutacion cambia las propiedades de la proteina. Conclusiones. En los ultimos años se han multiplicado las publicaciones sobre este sindrome, con la identificacion de mas de 50 familias en el mundo. Es importante conocer este sindrome y sospecharlo, porque el diagnostico es facil, economico y accesible (perfil tiroideo), y, aunque no tiene tratamiento especifico, el diagnostico precoz evita pruebas innecesarias y permite ofrecer consejo genetico a las familias afectadas.

Surgical treatment for kyphoscoliosis in Cohen syndrome.

Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of Cohen syndrome: truncal obesity, mental retardation, arachnodactyly, microcephalia, and a facial malformation. Scoliosis was conservatively treated with a brace at 13 years of age, but the spinal deformity rapidly progressed within a year. Plain radiographs before surgery showed scoliosis of 47 degrees (T5-T11) and 79 degrees (T11-L3), and kyphosis of 86 degrees (T7-L1). One-stage anteroposterior corrective fusion of T4-L3 was scheduled after 2-week Halo traction. Postoperative respiratory management was carefully performed because of Cohen syndrome-associated facial malformation, obesity, and reduced muscle tonus. Respiration was managed with intubation until the following day and no respiratory problems occurred. After surgery, thoracolumbar scoliosis was 28 degrees (correction rate: 65%). Kyphosis was markedly improved from 86 degrees to 20 degrees, achieving a favorable balance of the trunk. The outcome is favorable at 6.5 years after surgery. In conclusion, Cohen syndrome is often complicated by spinal deformity, particularly kyphosis, that is likely to progress even in adulthood. In our patient, spinal deformity progressed within a short period, even with brace treatment. Surgery should be required before progression to the severe spinal deformity with careful attention to general anesthesia.

The latissimus dorsi detrusor myoplasty for functional treatment of bladder acontractility.

Patients with bladder acontractility caused by lower motor neuron lesion are generally dependent on lifelong clean intermittent catheterization with all of its inherent risks. The functional neurovascular transfer of the latissimus dorsi muscle to the pelvis allows the restoration of voluntary voiding. This article describes the operative technique, indications, preoperative considerations, and postoperative care. The literature is reviewed and the latissimus detrusor myoplasty is compared with other functional muscle transfers to restore voluntary micturition.

Management of floppy eyelid associated with Down's syndrome: a case report.

PURPOSE: To report a case of floppy eyelid associated with Down's syndrome in a 2-year-old child. CASE REPORT: A 2-year-old child associated with Down's syndrome presented with a history of eversion of both upper lids during sleep and while crying since birth. There was no history of sleep apnea and no mechanical stimuli over eyelids. Examination under anesthesia revealed gross laxity with thick and rubbery tarsi in both the upper and lower lids. Vascularized corneal scar was present in both eyes. The laxity in the upper eyelids was corrected by pentagonal wedge resection and in the lower lids by lateral tarsal sling. No recurrence was observed up to 6-month follow-up. CONCLUSION: Although floppy eyelid is more common in middle-aged obese patients, it should be carefully looked for children particularly while dealing with Down's syndrome.

Acquired progressive hypotonia in infancy: consider compressive cervical myelopathy.

UNLABELLED: This case report presents a rare cause of progressive hypotonia due to a congenital bony defect of the atlas in a 2-month-old girl. The patient was initially referred to the paediatric department with feeding problems. Within days after admission she developed progressive hypotonia and showed decreased reflexes of the upper extremities. Magnetic resonance imaging showed compressive myelopathy at the level of vertebra C1. After laminectomy of the C1-vertebra the neurological symptoms resolved. CONCLUSION: Most anomalies of the vertebras are asymptomatic. Only symptomatic anomalies with compression and neurological symptoms need surgery.

Topical anesthetic abuse keratitis secondary to floppy eyelid syndrome.

PURPOSE: To report the diagnosis and management of a patient with chronic ophthalmic topical anesthetic abuse and floppy eyelid syndrome. METHODS: We describe the case of a 47-year-old man suffering from persistent bilateral ocular irritation and chronic corneal erosions. RESULTS: The patient was hospitalized in our ophthalmology department and underwent thorough ophthalmic, systemic, and psychiatric evaluation. Chronic topical anesthetic abuse was discovered. Removal of abused drops and copious lubricating treatment lead to partial improvement further permitting diagnosis of floppy eyelid syndrome. Definitive surgical treatment by horizontal eyelid tightening combined with continuous lubrication resulted in remission of symptoms. CONCLUSIONS: Uncommon conditions may coexist in 1 patient. In this case, floppy eyelid syndrome resulted in topical anesthetic abuse. Ophthalmologists should keep both these conditions in mind when treating patients with otherwise unexplained chronic persistent corneal erosions.

Functional detrusor myoplasty for bladder acontractility: long-term results.

PURPOSE: We present the long-term results of a multicenter investigation with latissimus dorsi detrusor myoplasty in patients with bladder acontractility caused by lower motor neuron lesion in whom there is no treatment alternative other than lifelong clean intermittent catheterization. MATERIALS AND METHODS: From 2001 to 2008, 24 patients (median age 39 years, range 13 to 63, 16 males, 8 females) requiring complete clean intermittent catheterization 4 to 7 times daily underwent latissimus dorsi detrusor myoplasty at 4 centers worldwide. Before the procedure patients were on clean intermittent catheterization for a median of 55 months (range 17 to 195). Median followup was 46 months (range 8 to 89) and was performed by urodynamics and measurement of post-void residual urine volume. Bladder contractility index was calculated. The t test was used for statistical analysis. RESULTS: Of the 24 patients 17 (71%) gained complete spontaneous voiding with a mean post-void residual urine volume of 25 ml (range 0 to 100). Mean bladder contractility index increased from 20.1 ± 7.6 to 176.2 ± 25.4 (p <0.001). In 3 patients (13%) the frequency of clean intermittent catheterization was reduced to 2 to 4 times daily with a mean post-void residual urine volume of 200 ml (range 150 to 250). Mean bladder contractility index was 12.0 ± 7.2 preoperatively and 68.7 ± 28.1 postoperatively (p = 0.12). Recurrent urinary tract infections (defined as the presence of clinical symptoms such as dysuria and fever, and microbiological evidence of germs) ceased in 21 of 23 patients (91%, mean preoperatively 8 per year). Four patients (17%) required clean intermittent catheterization with the same frequency as before the procedure (mean bladder contractility index preoperatively 22.5 ± 10.3 and postoperatively 26.0 ± 12.3, p = 0.83). No chronic pain at the donor site or vesicoureteral reflux was observed in any patient. CONCLUSIONS: The results of this multicenter analysis demonstrate that latissimus dorsi detrusor myoplasty is an effective alternative to clean intermittent catheterization in a select group of patients with neurogenic bladder acontractility.

[Diagnosis and treatment of pediatric anismus].

OBJECTIVE: To explore the diagnosis and treatment methods of pediatric anismus. METHODS: Twenty-nine patients with idiopathic chronic constipation, diagnosed with anismus by colon barium contrast and anorectal manometry from Nov. 2001 to Nov. 2004 in our hospital, were investigated retrospectively. RESULTS: This group consisted of 13 men and 16 women whose mean age was (6.7+/-4.0) years. Hirschsprung diseases were excluded from the patients by colon barium contrast and rectoanal inhibitory reflex (RAIR) examination. Normal RAIR (5-10 ml elicited) was showed on 21 cases while weakened RAIR (15-30 ml elicited) was showed on 8 cases. After the diagnosis, the patients were treated by toilet training, diet regulation and laxative for 1-2 months. 4 cases were recovered, 5 cases were improved and 20 cases were relied on glycerin suppository. Four cases, relied on glycerin suppository, underwent Lynn procedure and had good results after 5-24 months follow-up. Two cases were re-examined by anorectal manometry 3 and 6 months after surgery, the resting pressure and the high pressure zone (HPZ) decreased, but the simulation defecation reflex was still abnormal. CONCLUSIONS: The diagnosis of pediatric anismus relies on history of constipation, combined with anorectal manometry and colon barium contrast. Lynn procedure could be chosen for the patients unsatisfied in toilet training and other non-operative treatment.