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1.
Cureus ; 16(6): e62610, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39027739

RESUMO

Obesity prevalence is increasing with the modern lifestyle. Bariatric surgery is an excellent method to sustain weight reduction and the most commonly performed surgery is laparoscopic sleeve gastrectomy (LSG). The laparoscopic approach can be challenged in certain conditions such as situs inversus totalis (SIT). We report a 38-year-old gentleman with class II obesity known to have SIT. After complete preoperative preparation, we performed LSG with no complications. The main difficulty of performing any surgical procedure for SIT patients is the reversed anatomy. It is essential to highlight the importance of anatomy for surgeons. Proper preoperative anatomy assessment along with the surgeon's experience is the key element to perform LSG or any bariatric laparoscopic procedure in rare conditions such as SIT.

2.
Clin Case Rep ; 12(4): e8736, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38634089

RESUMO

This report described a patient not known to have a hepatic disease, found to have a drug-induced autoimmune hepatitis from denosumab. This is an unreported side effect, and here, we presented the possible predisposing factors and suggested monitoring parameters.

3.
Hematol Oncol Stem Cell Ther ; 17(2): 130-136, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38560974

RESUMO

OBJECTIVE: This study aims to compare the polysomnographic features between Arab-Indian and Benin phenotypes of sickle cell disease (SCD). MATERIALS AND METHODS: This prospective cross-sectional study was conducted in the Children's Hospital at King Fahad MedicalCity, in Riyadhwhere childrenwere recruited fromthe pediatric hematology clinic and pediatric sleepmedicine. All families were approached and patients who met the inclusion criteria and agreed to participate were included in the study. RESULTS: Eighty four children (37 of whom were females) with SCD were included in the study. Their median (interquartile) age was 9 (6.65, 11) years and their body mass index z score was -1.45 (-2.195, -1.45). The evidence of obstructive sleep apnea (OSA) was more prominent in the Benin phenotype (66.7%) in comparison to those of the Arab-Indian (35.2%) phenotype ( p = 0.006). Additionally, 56.7% of Benin had moderate to severe OSA whereas Arab-Indian had 18% with a ( p = 0.0003). Controlling for other factors, the odds ratio (confidence interval) of having OSA in Benin phenotype was 4.68 (1.42-15.38) times higher as compared to Arab-Indian phenotype. CONCLUSION: The risk of having OSA as well as the severity of OSA is higher in Benin phenotype as compared to Arab-Indian phenotype which indicates the presence of potential OSA risk factors other than the SCD itself.


Assuntos
Anemia Falciforme , Apneia Obstrutiva do Sono , Feminino , Humanos , Criança , Masculino , Estudos Transversais , Estudos Prospectivos , Polissonografia , Apneia Obstrutiva do Sono/epidemiologia , Anemia Falciforme/complicações , Fenótipo
4.
Front Med (Lausanne) ; 11: 1394652, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38835790

RESUMO

Introduction: Interprofessional education (IPE) is essential in pharmacy training, providing students with vital collaborative skills for real-world healthcare. Advanced Pharmacy Practice Experience (APPE) is integral to IPE, allowing students to apply their knowledge in diverse healthcare settings. The COVID-19 pandemic has disrupted healthcare education and raised concerns about its impact on IPE during APPE rotations. Our study investigates the pandemic's influence on pharmacy students' interprofessional interactions and APPE performance. Objective: To assess the interprofessional experiences of fourth-year pharmacy students before and during the COVID-19 pandemic in the context of APPE. Methods: This retrospective observational study examined the experiences of P4 pharmacy students in the United States during APPEs before and during the pandemic. We employed electronic surveys with 21 questions to gauge interactions and interprofessional team effectiveness, employing Likert scale response options. We compared responses between the 2019-2020 and 2020-2021 APPE rotations using statistical tests. Results: Our study encompassed 83 and 86 students for the 2019-2020 and 2020-2021 APPE rotations, respectively, achieving a 100% response rate. Amid the pandemic, written communications between pharmacy students and healthcare providers in general medicine rotations increased, while in-person engagement decreased. Pre-COVID, students reported higher colleague referrals and greater interprofessional utilization during ambulatory care rotations. Conclusion: COVID-19 shifted interactions from in-person to written communication between pharmacy students and healthcare providers. Students reported decreased satisfaction with their interprofessional experiences. This research offers insights into the changing landscape of pharmacy education, helping students prepare for evolving challenges in healthcare delivery and education.

5.
Cureus ; 14(12): e32187, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36620837

RESUMO

Cholecystocolonic fistula (CCF) and hemorrhagic cholecystitis are rare complications of gallstones that have a wide range of non-specific symptoms and clinical severity. We present a case of a 74-year-old woman on warfarin who presented to the emergency department with a 10-day history of abdominal pain, vomiting, and watery diarrhea. Her abdomen was distended with generalized tenderness and palpable mass in the right lower quadrant. Laboratory tests revealed leukocytosis and an elevated international normalized ratio (INR). After admission and imaging, exploratory laparotomy showed hemorrhagic cholecystitis with CCF in the cecum. There was no pus or stool contamination. A cholecystectomy followed by right hemicolectomy with primary ileocolic anastomosis was performed. The postoperative course was uneventful, and the patient was discharged in stable condition. The presence of hemorrhagic cholecystitis in conjunction with CCF could lead to significant consequences such as hemorrhagic and septic shock in older patients with comorbidities. It is crucial to identify and intervene early before clinical deterioration.

6.
Cureus ; 14(11): e31807, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36579241

RESUMO

Background The Charlson Comorbidity Index (CCI) has been validated as a predictor of overall survival and post-surgical mortality. CCI is adopted by Tokyo Guidelines as one of the main criteria in the management of acute cholecystitis. Our study evaluates the role of CCI in predicting difficult cholecystectomy.  Methods All patients who underwent cholecystectomy for acute cholecystitis between January 2017 and September 2019 were included. CCI, Emergency Surgery Score (ESS), and American Society of Anesthesiologists (ASA) score were calculated and analyzed to assess their predictive value for difficult cholecystectomy. Results A total of 96 patients were included and allocated to difficult and non-difficult cholecystectomy groups. CCI was found to be a significant predictor of difficult cholecystectomy (OR 1.59; 59% CI, 1.04. 2.42; p= 0.031). Similarly, ESS was found to be a predictor tool of difficult cholecystectomy (OR 1.42; 59% CI, 1.05. 1.93; p= 0.024). There was no significant difference in adverse outcomes between the two groups. Conclusion CCI was able to predict a difficult cholecystectomy in our study population. However further studies are required to evaluate if it can be used as a predictor of adverse outcomes in the context of acute cholecystitis.

7.
Saudi Med J ; 43(4): 329-340, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35414610

RESUMO

In Saudi Arabia, the prevalence of pediatric asthma ranges between 8% and 25%. However, there are no sufficient data regarding severe asthma in childhood in Saudi Arabia. Therefore, a task force has been formed by the Saudi Pediatric Pulmonology Association which is a subsidiary group of the Saudi Thoracic Society and consists of Saudi experts with well-respected academic and clinical backgrounds in the fields of pediatric asthma as well as other respiratory diseases to write a consensus on definitions, phenotypes, and pathophysiology, evaluation, and management. To achieve this, the subject was divided into various sections, each of which was assigned to at least 2 experts. Without a central literature review, the authors searched the literature using their own strategies. To reach an agreement, the entire panel reviewed and voted on proposed findings and recommendations.


Assuntos
Asma , Pneumologia , Comitês Consultivos , Asma/diagnóstico , Asma/epidemiologia , Asma/etiologia , Criança , Humanos , Prevalência , Arábia Saudita/epidemiologia
8.
Clin Case Rep ; 9(3): 1078-1082, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33768786

RESUMO

Gastropleural fistula (GPF) is a rare pathological communication between the stomach and pleura. It may complicate sleeve gastrectomy (SG). An endoscopic application of OTSC can be used to manage GPF.

9.
Am J Case Rep ; 22: e930299, 2021 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-34191791

RESUMO

BACKGROUND Ovarian leiomyomas are rare, benign, smooth muscle, solid tumors that occur in women aged 20 to 65 years. Because their histology is benign, the prognosis for patients is good. We report the case of a patient with a huge ovarian leiomyoma who presented to the General Surgery Clinic with chronic abdominal pain and progressive abdominal distention. CASE REPORT A 45-year-old woman with a history of multiple myomectomies and a total abdominal hysterectomy with right oophorectomy presented to the General Surgery Clinic with abdominal pain and a 4-year history of progressive distention. After being examined, the patient underwent an exploratory laparotomy, during which a pelvic cyst was found that measured 3930.2 cm, was filled with serous fluid (10.5 L), and occupied most of the abdominal space. The surgery went smoothly and there were no complications during or after the procedure. The patient was discharged home 7 days later in stable condition. Postoperative pathology using hematoxylin and eosin staining and immunohistochemistry with desmin and alpha-smooth muscle actin resulted in a diagnosis of leiomyoma with cystic degeneration. When the patient was seen in the outpatient clinic 2 weeks and 3 and 6 months after surgery, her tumor markers were within normal limits. Abdominal and pelvic computed tomography scans performed at the 6-month visit showed resolution of the loculated intraperitoneal fluid and no gross local recurrence of the tumor. CONCLUSIONS Ovarian leiomyomas are difficult to diagnose preoperatively. Suspicion for one should be high, however, in patients who present with a large cystic mass in adnexal tissues, especially if they have a history of hysterectomy and oophorectomy.


Assuntos
Leiomioma , Recidiva Local de Neoplasia , Dor Abdominal/etiologia , Feminino , Humanos , Histerectomia , Leiomioma/complicações , Leiomioma/diagnóstico , Leiomioma/cirurgia , Pessoa de Meia-Idade , Ovariectomia
10.
Ann Med Surg (Lond) ; 66: 102440, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34141418

RESUMO

BACKGROUND: Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) mandate well-established HIPEC and oncology centers, which are not available in many medical institutions. This study assessed the knowledge, attitude, and practice toward CRS and HIPEC of general surgeons in Riyadh, Saudi Arabia. PATIENTS AND METHODS: General surgeons (n = 266) from nine hospitals who treat patients with gastrointestinal cancer were surveyed. The responses of surgeons who work in HIPEC and academic centers (Group A) and surgeons working in tertiary and secondary hospitals (Group B) were compared. The survey response rate was 48.1% (128/266). RESULTS: Surgeons in group B treated significantly more patients with peritoneal carcinomatosis per year than surgeons in group A (P = .001). Group B reported having a HIPEC specialist at their hospital, and 71.4% reported that the nearest HIPEC center was within 30 miles, compared to 4.5% of respondents in group A (P = .001). Lack of access to a HIPEC specialist was reported by 15.5% of surgeons in group B and 0% of surgeons in group A (P = .006). HIPEC as a possible therapeutic option for appendiceal cancer was cited by 60.7% of surgeons in group B compared to 84.1% of surgeons in group A (P = .007) and as a therapeutic option for ovarian cancer by 52.4% of surgeons in group B and 81.8% of surgeons in group A (P = .001). CONCLUSION: New strategies are needed to improve the knowledge and implementation of the referral system for HIPEC among general surgeons. Our study was limited by a low response rate.

11.
Int J Pediatr Adolesc Med ; 8(4): 258-263, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34401452

RESUMO

BACKGROUND: Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings. METHODS: This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup. RESULTS: In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the genetic background of the patient. Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%. The median body mass index (BMI) was 15.87 kg/m2, with a median z score of -1.48. The median FEV1 value was 67.6% (z score - 2.43). Radiologically, bronchiectasis was noted in 81% of patients at a variable degree of severity. Lung bases were involved in 91% of patients. We were unable to correlate the genotype-phenotype findings. CONCLUSION: We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.

12.
BMC Pediatr ; 10: 8, 2010 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-20156343

RESUMO

BACKGROUND: Endothelial dysfunction is a complication of both obesity and obstructive sleep apnea syndrome (OSAS), the latter being highly prevalent among obese children. It is unknown whether obesity causes endothelial dysfunction in children in the absence of OSAS. This study examines endothelial function in obese and non-obese children without OSAS. METHODS: Pre-pubertal non-hypertensive children were recruited. Endothelial function was assessed in a morning fasted state, using a modified hyperemic test involving cuff-induced occlusion of the radial and ulnar arteries. The absence of OSAS was confirmed by overnight polysomnography. Anthropometry was also performed. RESULTS: 55 obese children (mean age 8.6 +/- 1.4 years, mean BMI z-score: 2.3 +/- 0.3) were compared to 50 non-obese children (mean age 8.0 +/- 1.6 years, mean BMI z-score 0.3 +/- 0.9). Significant delays to peak capillary reperfusion after occlusion release occurred in obese compared to non-obese children (45.3 +/- 21.9 sec vs. 31.5 +/- 14.1 sec, p < 0.01), but no differences in the magnitude of hyperemia emerged. Time to peak reperfusion and percentage of body fat were positively correlated (r = 0.365, p < 0.01). CONCLUSIONS: Our findings confirm that endothelial dysfunction occurs early in life in obese children, even in the absence of OSAS. Thus, mechanisms underlying endothelial dysfunction in pediatric obesity are operational in the absence of sleep-disordered breathing.


Assuntos
Dislipidemias/fisiopatologia , Endotélio Vascular/fisiopatologia , Obesidade/fisiopatologia , Glicemia/análise , Pressão Sanguínea , Composição Corporal , Índice de Massa Corporal , Proteína C-Reativa/análise , Criança , Dislipidemias/complicações , Células Endoteliais/fisiologia , Feminino , Mãos/irrigação sanguínea , Humanos , Hiperemia/fisiopatologia , Fluxometria por Laser-Doppler , Masculino , Obesidade/complicações , Polissonografia , Reperfusão , Sono
13.
JRSM Open ; 11(2): 2054270419894821, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32095252

RESUMO

BACKGROUND: Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries. CASE PRESENTATION: A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Further tests, including a chest computed tomographic scan, lung biopsy and genetic testing, confirmed a diagnosis of surfactant protein C dysfunction. CONCLUSION: We report the first case in the Arab region of childhood interstitial lung disease caused by surfactant protein C deficiency.

14.
Saudi J Biol Sci ; 27(1): 460-464, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31889871

RESUMO

Tobacco cigarette smoking is assumed to be a key reason of death all over the world. Smoking had both severe as well long-lasting effects on hematological constraints. As per the data available from World Health Organization, every year nearly 5 million individuals die around the world due to the diseases triggered by smoking. Cigarette smoking is linked with an elevated risk of cardiovascular diseases. To examine the association between shisha or cigarette smoking and the severity of polycythemia, present study is a cross-sectional organized at King Saud University Medical City during the period from October 2017 to April 2018. Participants were patients who have hemoglobin level above 160 g/L on multiple reading in KSUMC between May 2015-February 2018. The sample size (227 patients) was computed on single proportion formula, Data were collected through questionnaires and from medical record of the patients. A pilot study was conducted to evaluate the validity of the questionnaire. A statistical analysis was performed using SPSS 21.0 version. A p-value of ≤ 0.05 considered as statistically significant. Out of 227 study subjects, 86 (37.8%) were smokers, (61.6%) were cigarette smokers while (29%), shisha smokers. Total (9.3%) were smoking both cigarette and Shisha. 29% patients had high normal hemoglobin between the ranges of (160-168 g/L), 17.6% patients had pre-polycythemic hemoglobin between the range of (169-171 g/L) and 53% patients were having polycythemic hemoglobin (>172 g/L). The hemoglobin level in non-smokers was 168.74 g/L, hemoglobin level in cigarette smokers was170.7 g/L, hemoglobin level in shisha smokers was 171.4 g/L while hemoglobin level in those who smokes both cigarette and shisha was 175 g/L. Smoking has adverse effects on hemoglobin. Shisha or cigarette Smoking is associated with increase in the hemoglobin levels and the severity of polycythemia. The findings may help in raising the awareness of tobacco smokers.

15.
Middle East J Anaesthesiol ; 20(1): 97-100, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19266834

RESUMO

UNLABELLED: Several factors have been incriminated in the etiologies of critical incidents: shortages in organizing rules, anesthesia technique, patient environment, human factor, team work and communication. This is the third follow up report describing our performance during the last five years (2003-2008). The possible incriminating causes were identified with the objective of avoiding such eventualities and consequently providing a better patient outcome. PATIENTS & METHODS: The computerized database and the medical records of critical incidents reports in our Department during the period of 2003-2008 were reviewed on case-by-case basis. Seventy reported incidents were discussed in the Department's Morbidity & Mortality Meetings (MMM). Incidents were classified as per possible incriminating causes: pulmonary, cardiovascular, central nervous system, metabolic, inadvertent drug injection, communicating failure, equipment failure and miscellaneous causes. RESULTS: Most of the critical incidents reports occurred during maintenance of anesthesia, followed next by during induction and next by same operative day later in the ward. The majority of cases were respiratory events (29 cases), followed by communication failure (12 cases), failure of equipment (9 cases) and inadvertent drug injection (4 cases). CONCLUSIONS: Respiratory events, human errors, team communication and equipment failures, continue to be the leading causes of critical incidents. Critical incidents are apt to occur so long as the human factor is involved. Vigilance in operational efficiency and the scrutiny in drug administration, supervision and training should be closely monitored in order to minimize critical incident reports.


Assuntos
Anestesia Geral/efeitos adversos , Emergências , Erros Médicos , Comunicação , Falha de Equipamento , Estudos de Avaliação como Assunto , Hospitais de Ensino/estatística & dados numéricos , Humanos , Incidência , Fatores de Tempo
16.
J Robot Surg ; 13(1): 141-146, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29948878

RESUMO

Robotic technology has a promising future in surgical field. Robotic-assisted laparoscopy is a newly advance technology which is highly accepted by most of surgeons in various surgical procedures. As the pediatric surgeons adopt and master robotic technique, anesthesiologists familiarized themselves with this technique as well. Robotic surgery required a high-quality of perioperative anesthesia care that is essential for optimizing surgical outcome and patient safety. A retrospective analysis of robotic-assisted surgery for all children under age of 18 years from June 2004 to November 2013 at King Khalid University Hospital was conducted. Data of demographic (age, sex, and weight), type of procedures, operative time, intraoperative and postoperative complications were noted. Seventy robot assisted laparoscopy procedures were performed using the da Vinci surgical system. All procedures except three cases were successfully completed using robot with mean operative time of 110 min. Nissen fundoplication (34 cases) was the commonest robotic surgical procedure performed followed by cholecystectomy, anal-pull through and gastric banding. There were no intraoperative and postoperative complications related to anesthesia. Robotic-assisted laparoscopy is a safe and feasible technique for a variety of pediatric procedures. Our findings suggest that, perioperative anesthesia care should be considered in advance with high anesthetic precautions to maximize patient safety and improve surgical outcome. It is worth to have more studies measuring clinical anesthesia outcome of pediatric robotic surgery.


Assuntos
Anestesia , Hospitais Universitários/estatística & dados numéricos , Laparoscopia/métodos , Assistência Perioperatória , Procedimentos Cirúrgicos Robóticos/métodos , Adolescente , Criança , Pré-Escolar , Colecistectomia Laparoscópica/métodos , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Estudos de Viabilidade , Feminino , Fundoplicatura/métodos , Humanos , Lactente , Complicações Intraoperatórias/prevenção & controle , Masculino , Duração da Cirurgia , Pediatria , Complicações Pós-Operatórias/prevenção & controle , Segurança , Resultado do Tratamento
17.
Saudi Med J ; 29(12): 1723-5, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19082220

RESUMO

OBJECTIVE: To present the safety and efficacy of epidural blockade in children. METHODS: A respective review was carried out at the King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia from April to December 2007. The patient age, type of surgery, epidural level block, technique, local anesthetic dose, and quality of epidural block were analyzed. RESULTS: Thirty-eight epidural blockades in children with a mean age of 3 years +/- 7 months were performed under general anesthesia for different procedures. All patients had minimal, or no intravenous narcotic and exhibited hemodynamic stability. There were no intraoperative or postoperative complications. CONCLUSION: Epidural anesthesia in children is safe and effective intraoperatively, as well as, for postoperative pain control.


Assuntos
Anestesia Epidural , Procedimentos Cirúrgicos Eletivos , Anestesia Caudal , Pré-Escolar , Feminino , Hospitais Universitários , Humanos , Lactente , Perna (Membro)/cirurgia , Masculino , Procedimentos Ortopédicos , Estudos Retrospectivos , Arábia Saudita , Doenças Urológicas/cirurgia
18.
Saudi Med J ; 29(9): 1344-6, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18813426

RESUMO

Sevoflurane is thought to have a potential for hepatotoxicity. A few cases of hepatotoxicity have been reported since it was introduced in 1990 into clinical practice in Japan. The underlying pathophysiology of hepatotoxicity is nonspecific. We report a case of severe hepatic dysfunction after uneventful sevoflurane anesthesia in a child with posterior fossa resection of medulloblastoma. The case of sevoflurane being incriminated is unclear due to various confounding factors that is worthy of discussion.


Assuntos
Anestésicos Inalatórios/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas , Éteres Metílicos/efeitos adversos , Neoplasias Cerebelares/cirurgia , Criança , Feminino , Humanos , Meduloblastoma/cirurgia , Sevoflurano
19.
J Family Community Med ; 25(3): 183-187, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30220848

RESUMO

OBJECTIVE: The aim of the study was to evaluate snoring and obstructive sleep apnea (OSA) in Saudi children with sickle cell disease (SCD). MATERIALS AND METHODS: This cross-sectional study was conducted among children with SCD attending a hematology clinic were recruited. Demographics, clinical data, and sleep questionnaires were collected and overnight polysomnographies performed. RESULTS: Seventy children (31 of whom were females) with SCD were included in the study. Their median (interquartile) age was 9 (6.5, 11) years and their body mass index z-score was -1.2 (-2.0, -0.4). Seventy-four percent of SCD patients snored and 32 (46%) had evidence of OSA (obstructive apnea-hypopnea index [OAHI] ≥2 events per hour of sleep), 13 of whom had moderate OSA (OAHI ≥5 and <10 events per hour of sleep) and 10 had severe OSA (OAHI ≥10 events per hour of sleep). CONCLUSION: Snoring and the proportion of OSA were high in children with SCD. This underlines the importance of screening for OSA in all children with SCD.

20.
J Med Case Rep ; 11(1): 122, 2017 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-28464852

RESUMO

BACKGROUND: The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene. CASE PRESENTATION: A 5-year-old Saudi boy presented with a history of progressive dyspnea over 6 months; he was diagnosed as having pulmonary alveolar proteinosis. A molecular study revealed a novel variation in colony stimulating factor 2 receptor alpha gene. His clinical condition showed significant improvement after whole lung lavage. CONCLUSIONS: This case has the typical presentation of congenital pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha defect with a novel variant in this gene likely to be pathogenic.


Assuntos
Lavagem Broncoalveolar , Dispneia/fisiopatologia , Fator Estimulador de Colônias de Granulócitos e Macrófagos/genética , Mutação , Proteinose Alveolar Pulmonar/congênito , Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos/genética , Pré-Escolar , Progressão da Doença , Dispneia/etiologia , Dispneia/terapia , Marcadores Genéticos , Fator Estimulador de Colônias de Granulócitos e Macrófagos/fisiologia , Humanos , Masculino , Linhagem , Proteinose Alveolar Pulmonar/genética , Proteinose Alveolar Pulmonar/fisiopatologia , Proteinose Alveolar Pulmonar/terapia , Irmãos , Resultado do Tratamento
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