Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report.

BACKGROUND: Allgrove syndrome is a multisystem disorder first described in 1978 and is classically associated with esophageal achalasia, alacrima, and adrenal insufficiency. Allgrove syndrome is caused by homozygous and/or compound heterozygous mutations on Chromosome 12q13, designated as "AAA" (Achalasia, Addisonianism Alacrima). AAA encodes the protein ALADIN (Alacrima, Achalasia, aDrenal Insufficiency Neurologic disorder), a member of the nuclear porin family forming the nuclear pore complex. PURPOSE: The purpose of this case report is to illustrate the clinical decision making and results following an active rehabilitation program on a patient with Allgrove syndrome. A detailed physical examination is also provided to contribute to the body of knowledge regarding the clinical presentation of this disorder. CONCLUSION: It appears that in this case, this patient with Allgrove syndrome demonstrated a significant increase in endurance, balance, and a return to functional activities and participation following a 10-week physical therapy program consisting of task-oriented exercise, aerobic training, postural control exercises, and patient education. Due to the pathophysiology of Allgrove syndrome, these patients cannot be exercised in a traditional manner. It is prudent to perform these interventions with precautions including frequent monitoring of vitals, rest breaks in cool environments, close supervision during balance tasks, and submaximal exercise at a Borg scale of moderate intensity. C.A.'s overall improvements illustrate the potential value of complementing the medical management of persons with Allgrove syndrome with active exercise interventions.

Effectiveness of peroral endoscopic myotomy in the treatment of achalasia: a pilot trial in Chinese Han population with a minimum of one-year follow-up.

OBJECTIVE: To investigate the outcomes of Chinese Han patients who underwent peroral endoscopic myotomy (POEM) for achalasia. METHODS: Patients undergoing POEM for achalasia at the Affiliated Drum Tower Hospital of Nanjing University Medical School were prospectively enrolled in this study, with a follow-up duration of at least one year. Their outcomes were evaluated by analyzing esophageal manometry, timed barium esophagogram and 36-Item Short Form Health Survey (SF-36), which were performed before surgery, 5 days after surgery and at the last follow-up. Patients' symptom relief was considered the primary outcome. Secondary outcomes included lower esophageal sphincter (LES) pressure, esophageal emptying, patients' quality of life (QoL) and procedure-related complications. RESULTS: Eighty-seven patients were included in the study. Eckardt score after POEM was remarkably lower than the preoperative score (0.4 ± 0.7 vs 7.1 ± 2.1, P = 0.001). The preoperative LES pressure was 32.4 ± 15.3 mmHg, which was decreased to 3.8 ± 3.9 mmHg immediately after surgery. The height of the barium column at 1 min after barium swallow was significantly reduced after treatment (11.7 ± 1.2 cm vs 3.2 ± 1.6 cm, P < 0.001). The patients' QoL was also improved, as indicated by obviously increased physical and mental component summary (PCS and MCS) scores of the SF-36. Complications occurred during POEM included cutaneous emphysema, mucosal injury and pneumothorax. CONCLUSION: POEM is an effective approach for treating achalasia, which can relieve the symptoms of achalasia by improving esophageal emptying and lowering LES pressure.

[Rehabilitation of the patients presenting with oesophageal achalasia following balloon cardiodilation].

The present study involved a total of 25 patients presenting with oesophageal achalasia who had undergone balloon cardiodilation. The complex of rehabilitative measures concluded the application of an ultrahigh-frequency electromagnetic fields (decimeter wave (DMW) therapy) to the collar region and general iodine bromide baths. The treatment resulted in the elimination of dysphagia syndrome during consumption of solid food in 80% of the patients. Simultaneously, the oesophagogastroscopic study revealed the improvement of the state of oesophageal mucosa. Moreover, the thyrotropin level was normalized. The positive effect of such rehabilitative treatment persisted during 6-8 months.

Disfagia cricofaríngea en paciente con cervicalgia crónica / Cricopharyngeal dysphagia in patient with chronic cervicalgia

La acalasia o disfagia cricofaríngea se refiere al fracaso de apertura del esfínter esofágico superior (EES), que produce principalmente disfagia a sólidos, regurgitaciones y/o aspiraciones. Se diagnostica por esofagograma, videofluoroscopia (VDF) y manometría. El tratamiento mayoritariamente es quirúrgico. Se presenta a un paciente que acude a consultas de aparato locomotor aquejado de cervicalgia crónica y dificultad deglutoria, que inicialmente relacionamos con la presencia de osteofitos que improntan en el esófago en radiografía. Ante la persistencia de disfagia, se solicita tránsito de bario que descarta nuestra hipótesis y concluye con el diagnóstico de espasmo cricofaríngeo con presencia de divertículo. Se pretende evidenciar la importancia de que el médico rehabilitador, por su formación en diferentes disciplinas como la foniatría, deba tener una visión global del enfermo, sin límites exploratorios de cara a la obtención de datos relevantes para la orientación diagnóstica (AU)

Achalasia or cricopharyngeal dysphagia refers to the failure to open the upper esophageal sphincter (UES), mainly producing dysphagia to solids, regurgitations and/or aspirations. It is diagnosed by esophagogram, videofluoroscopy (VDF) and manometry. Treatment is mainly surgical. We report the case of a patient who came to the Locomotive System Unit, with complaints of chronic cervicalgia and difficulties in swallowing, which was initially associated to the presence of osteophytes observed in the esophagus X-ray. Due to the persistence of dysphagia, barium transit tests were carried out, ruling out our hypothesis. The diagnosis of cricopharyngeal spasms accompanied by diverticula was finally established. This study aims to show the importance for the rehabilitation medical specialist, trained in different disciplines such as phoniatry, to have a global vision of each patient, without imposing exploratory limitations in order to obtain relevant data in the diagnostic approach (AU)

Long-term results and quality of life after surgery for oesophageal achalasia: one surgeon's experience.

OBJECTIVE: To assess the long-term results and health-related quality of life in patients undergoing surgery for oesophageal achalasia. METHODS: Thirty-nine patients with achalasia (25 males, mean age 42+/-13 years) underwent open-Heller myotomy and Dor fundoplication by the same surgeon. Long-term results were assessed by imaging, endoscopy, manometry, pH-metry, and Short Form 36 and Nottingham Health Profile questionnaires whenever applicable. Six patients were at radiological stage I, 20 were at stage II, 2 at stage III and 11 at stage IV. Dysphagia and regurgitation were scored according to the four-grade classification (1=no symptoms; 4=persistent symptoms). Pulmonary symptoms were present in six patients. Lower oesophageal pressure was 30+/-34 mmHg. Six patients had undergone previous pneumatodilation. RESULTS: No procedure related mortality was recorded. Mean follow-up was 107+/-30 months (54-177). Preoperative to 5-year postoperative mean decrement in lower oesophageal sphincter pressure was 12.3+/-8.3 mmHg (P < 0.001) in oesophageal width was 11.5+/-7.1 mm (P < 0.001) in dysphagia 1.8+/-0.8 (P < 0.001) and regurgitation 1.4+/-0.7 (P < 0.001) Four patients presented relapse dysphagia and two of those were re-operated upon. Three patients developed acid reflux, which was satisfactorily treated with proton-pump inhibitors. Preoperative to 4-year postoperative quality of life scores were available for 20 patients. Questionnaires showed a significant improvement (P < 0.001) especially in all psychosocial domains, which were correlated with postoperative dysphagia score and lower oesophageal sphincter pressure. CONCLUSION: Heller myotomy and Dor fundoplication is a safe and effective procedure that improves symptoms, functional status and especially psychosocial aspect of quality of life in the long term in oesophageal achalasia.

Acalasia en la edad pedíatrica / Achalasia in the children

La acalasia es una patología infrecuente en la edad pediátrica. Presentamos un caso tratado mediante una miotomía modificada de Heller, con una técnica antirreflujo, obteniendo excelente resultado. La literatura revisada apoya esta forma de tratamiento por las buenos resultados alcanzados.