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Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the malfunction of motile cilia and a specific etiology of adult bronchiectasis of unknown prevalence. A better understanding of the clinical phenotype of adults with PCD is needed to identify individuals for referral to diagnostic testing. What is the frequency of PCD among adults with bronchiectasis; how do people with PCD differ from those with other etiologies; and which clinical characteristics are independently associated with PCD? We investigated the proportion of PCD among the participants of the Prospective German Non-CF-Bronchiectasis Registry (PROGNOSIS) study; applied multiple imputation to account for missing data in 64 (FEV 1), 58 (breathlessness), 26 (pulmonary exacerbations), and two patients (BMI), respectively; and identified predictive variables from baseline data using multivariate logistic regression analysis. We consecutively recruited 1,000 patients from 38 centers across all levels of the German health care system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 patients (9%) after idiopathic, postinfective, COPD, and asthma. People with PCD showed a distinct clinical phenotype. In multivariate regression analysis, the chance of PCD being the etiology of bronchiectasis increased with the presence of upper airway disease (chronic rhinosinusitis and/or nasal polyps; adjusted OR [aOR], 6.3; 95% CI, 3.3-11.9; P <.001), age < 53 years (aOR, 5.3; 95% CI, 2.7-10.4; P <.001), radiologic involvement of any middle and lower lobe (aOR, 3.7; 95% CI, 1.3-10.8; P =.016), duration of bronchiectasis > 15 years (aOR, 3.6; 95% CI, 1.9-6.9; P <.001), and a history of Pseudomonas aeruginosa isolation from respiratory specimen (aOR, 2.4; 95% CI, 1.3-4.5; P =.007). Within our nationally representative cohort, PCD was a common etiology of bronchiectasis. We identified few easy-to-assess phenotypic features, which may promote awareness for PCD among adults with bronchiectasis. ClinicalTrials.gov; No.: NCT02574143 ; URL: www.clinicaltrials.gov [ABSTRACT FROM AUTHOR]

Data are limited on the genetic profile of primary ciliary dyskinesia (PCD) from developing countries. Here, we report one of the first study on genetic profile of patients with suspected PCD from India. In this prospective cross‐sectional study, we enrolled 162 children with suspected PCD. We recorded clinical features, relevant laboratory tests for PCD and performed whole exome sequencing (WES). We are reporting 67 patients here who had positive variant/s on WES. We had 117 variants in 40 genes among 67 patients. Among the 108 unique variants, 33 were categorized as pathogenic or likely pathogenic (P/LP). We had nine novel variants in out cohort. The 29 definite PCD cases, diagnosed by composite reference standards, had variants in 16 genes namely LRRC6/DNAAF11 (5), DNAH5 (3), CCDC39 (3), HYDIN (3), DNAH11 (2), CCDC40 (2), CCDC65 (2) and one each DNAAF3, DNAAF2, CFAP300, RPGR, CCDC103, CCDC114, SPAG1, DNAI1, and DNAH14. To conclude, we identified 108 unique variants in 40 genes among 67 patients. The common genes involved in definite cases of PCD in Indian patients were LRRC6, DNAH5, CCDC39, and HYDIN. Our findings suggest a need to develop a separate genetic panel for PCD in the Indian population. [ABSTRACT FROM AUTHOR]

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia, primarily impacting the respiratory system. Kartagener syndrome, a subset of PCD, is characterized by situs inversus, bronchiectasis, and chronic sinusitis. Patients with PCD are prone to recurrent respiratory infections due to impaired ciliary function, which hinders effective mucus clearance and promotes pathogen colonization. This case report describes a 24-year-old woman with congenital Kartagener syndrome who developed eosinophilic pneumonia caused by Toxocara canis, a rare parasitic infection that less commonly affects the lungs. Despite initial treatment for a presumed bacterial infection, the patient's symptoms persisted. Further diagnostics revealed elevated eosinophil counts, total IgE, and the presence of Toxocara canis antibodies. The patient was treated with albendazole, resulting in significant symptom improvement and a reduction in inflammatory markers. This case underscores the diagnostic challenges in treating PCD patients, where atypical infections must be considered, particularly when standard treatments prove ineffective. The complexity of the patient's condition required interdisciplinary management, integrating parasitological, immunological, and respiratory expertise to ensure appropriate treatment. The case highlights the need for further research into the interactions between congenital respiratory disorders such as Kartagener syndrome and parasitic infections. It also emphasizes the importance of a comprehensive diagnostic approach in managing rare genetic diseases complicated by opportunistic infections. Early detection of parasitic infections in PCD patients is crucial to preventing severe complications, and this case reinforces the necessity of considering parasitic causes in atypical pneumonia cases. [ABSTRACT FROM AUTHOR]

Introduction. Organ transposition due to situs inversus (SI) is a rare condition that makes the diagnosis of acute appendicitis difficult. This condition entails that the patient' symptoms and physical examination findings may be atypical, which requires the use of images for diagnostic confirmation in most cases. Clinical cases. Three cases of appendicitis in patients diagnosed with situs inversus are described. Two of them had a known medical history, while the third case was diagnosed intraoperatively. Results. In two patients it was decided to undergo laparoscopic surgery without additional diagnostic images. The patients progressed satisfactorily. Conclusion. Appendicitis should always be considered in the differential diagnoses in patients with pain in the left iliac fossa. It is essential to diagnose and treat appendicitis effectively to minimize associated complications. The importance of the anamnesis and the examiner's clinical suspicion are vital in these cases, which can be confirmed with diagnostic images. There may be cases where the patient's clinical condition does not allow diagnostic imaging studies to be performed, increasingly supports the use of the laparoscopic approach. It is recommended to consider the laparoscopic approach in the first instance, since it allows us to confirm the diagnosis of situs inversus totalis in case the history is unknown and facilitates timely management of the emergency. [ABSTRACT FROM AUTHOR]

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Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement (situs solitus [SS]) or mirror image inversion (situs inversus totalis [SIT]). Do patients with PCD and SA achieve worse clinical outcomes compared with those with SS or SIT? This cross-sectional, multicenter study evaluated participants aged 21 years or younger with PCD. Participants were classified as having SA, including heterotaxy, or not having SA (SS or SIT). Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39 or CCDC40 genotype, using generalized linear models and logistic and Poisson regression. In 397 participants with PCD (mean age, 8.4 years; range, 0.1-21), 42 patients were classified as having SA, including 16 patients (38%) with complex cardiovascular malformations or atrial isomerism, 13 patients (31%) with simple CVM, and 13 patients (31%) without cardiovascular malformations. Of these, 15 patients (36%) underwent cardiac surgery, 24 patients (57%) showed an anatomic spleen abnormality, and seven patients (17%) showed both. The remaining 355 participants did not have SA, including 152 with SIT and 203 with SS. Overall, 70 participants (17%) harbored the severe CCDC39 or CCDC40 genotype. Compared with participants without SA, those with SA showed lower median BMI z scores (P =.03), lower FVC z scores (P =.01), and more hospitalizations and IV antibiotic courses for acute respiratory infections during the 5 years before enrollment (P <.01). Participants with cardiovascular malformations requiring surgery or with anatomic spleen abnormalities showed lower median BMI z scores and more hospitalizations and IV therapies for respiratory illnesses compared with participants without SA. Children with PCD and SA achieve worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with SS or SIT combined. Poor nutrition and increased hospitalizations for respiratory infections in participants with SA and PCD are associated with cardiovascular malformations requiring cardiac surgery, splenic anomalies, or both. ClinicalTrials.gov; Nos.: NCT02389049 and NCT00323167; URL: www.clinicaltrials.gov. [ABSTRACT FROM AUTHOR]

Background: Kartagener syndrome (KS) is recognized as an inherited, autosomal recessive disorder characterized by a combination of chronic sinusitis, bronchiectasis, and situs inversus. It affects one in 12,500–50,000 live births worldwide. Aim: This paper aims to discuss the dental management of patients diagnosed with KS. Case Report: A 31‐year‐old male with KS manifests by impaired cilia motility which increases the risk of a frequent lung infection. The dental examination revealed that the patient required comprehensive oral hygiene care which included patient education and nonsurgical periodontal therapy under local anesthesia. Conclusions: Dental care providers should ask affected patients with KS about their signs and symptoms of cardiac and pulmonary disease and seek consultation with their attending physician regarding these health concerns before the initiation of general anesthesia and perhaps conscious sedation administration. Patients with KS with emerging cardiac and/or respiratory impairment should be referred promptly for medical assessment. [ABSTRACT FROM AUTHOR]

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia, primarily impacting the respiratory system. Kartagener syndrome, a subset of PCD, is characterized by situs inversus, bronchiectasis, and chronic sinusitis. Patients with PCD are prone to recurrent respiratory infections due to impaired ciliary function, which hinders effective mucus clearance and promotes pathogen colonization. This case report describes a 24-year-old woman with congenital Kartagener syndrome who developed eosinophilic pneumonia caused by Toxocara canis, a rare parasitic infection that less commonly affects the lungs. Despite initial treatment for a presumed bacterial infection, the patient’s symptoms persisted. Further diagnostics revealed elevated eosinophil counts, total IgE, and the presence of Toxocara canis antibodies. The patient was treated with albendazole, resulting in significant symptom improvement and a reduction in inflammatory markers. This case underscores the diagnostic challenges in treating PCD patients, where atypical infections must be considered, particularly when standard treatments prove ineffective. The complexity of the patient’s condition required interdisciplinary management, integrating parasitological, immunological, and respiratory expertise to ensure appropriate treatment. The case highlights the need for further research into the interactions between congenital respiratory disorders such as Kartagener syndrome and parasitic infections. It also emphasizes the importance of a comprehensive diagnostic approach in managing rare genetic diseases complicated by opportunistic infections. Early detection of parasitic infections in PCD patients is crucial to preventing severe complications, and this case reinforces the necessity of considering parasitic causes in atypical pneumonia cases.

Copyright of Alerta (San Salvador) - Revista Cientifica del Instituto Nacional de Salud is the property of Instituto Nacional de Salud and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Key message Kartagener syndrome, a rare genetic disorder, can present in adults with persistent respiratory symptoms and radiological changes, such as bronchiectasis and situs inversus. Clinicians should maintain a high clinical suspicion, as early recognition and appropriate management are crucial for preserving pulmonary function.

Laparoscopic surgery in patients with obesity with situs inversus (SI) may pose interesting challenges to diagnosing and managing due to the mirror image anatomy. Since in SI patient's organs are displaced, the surgery requires high levels of precision and hand-eye coordination. SI and bariatric surgery may pose challenges for the surgical team. A total of 46 patients were reported in this systematic review. The mean age of cases was ~39 years (range 19–59), and the mean BMI was 45.9 kg/m2 (range 35–76). Of the included 46 patients, 39 had SIT. In the majority of the included patients, either a laparoscopic Roux-en-Y gastric bypass (LRYGB) (in 15 patients (35%)) or a laparoscopic sleeve gastrectomy (LSG) (in 21 patients (45.6%)) was performed. Complications were documented in 3 cases. [ABSTRACT FROM AUTHOR]

Introduction Primary ciliary dyskinesia (PCD) is a rare inherited disease associated with impairment of mucociliary transport and, consequently, with a high incidence of chronic rhinosinusitis. For patients with chronic rhinosinusitis who remain symptomatic despite medical treatment, endoscopic sinus surgery is a safe and effective therapeutic option. However, to date, no studies have been found evaluating the effect of surgery on the quality of life associated with the effect on olfaction and nasal endoscopy findings of patients with primary ciliary dyskinesia and chronic rhinosinusitis. Objective To describe the effect of endoscopic sinus surgery on the quality of life, on olfaction, and on nasal endoscopy findings of adults with PCD and chronic rhinosinusitis. Methods Four patients who underwent endoscopic sinus surgery were included. The Sinonasal Outcome Test-22 (SNOT-22) score, the Nasal Obstruction Symptom Evaluation (NOSE) questionnaire, and the Lund-Kennedy score were collected preoperatively and at 3 and 6 months postoperatively. The olfaction as assessed with the University of Pennsylvania Smell Identification Test (UPSIT), which was administered preoperatively and 3 months postoperatively. Results A total of 4 patients with a mean age of 39.3 years old (3 men and 1 woman) completed the study. All patients showed clinically significant improvement in the SNOT-22, NOSE, and Lund-Kennedy scores at 3 months postoperatively, and this improvement was sustained throughout the follow-up period. However, olfaction did not improve after surgery. Conclusion The endoscopic sinus surgery treatment of chronic rhinosinusitis in adults with PCD was associated with improvement in quality of life and endoscopic findings. However, no improvement in olfaction was demonstrated. Studies with a larger number of patients and control groups should help confirm these findings. [ABSTRACT FROM AUTHOR]

Siewert–Kartagener’s syndrome, a type of primary ciliary dyskinesia, is a complex disease comprising situs inversus, rhinosinusitis, and bronchiectasis. Situs inversus totalis is a condition in which all organs in the thoracic and abdominal cavities are reversed. Furthermore, primary ciliary dyskinesia, an autosomal genetic disease, may coexist with situs inversus totalis. Reports on Siewert–Kartagener’s syndrome in veterinary medicine are limited. We report a rare case of primary ciliary dyskinesia with Siewert-Kartagener’s syndrome in a dog, concurrently infected with canine distemper virus and type-2 adenovirus. This case highlights that situs inversus totalis can cause primary ciliary dyskinesia, and concurrent infections are possible. [ABSTRACT FROM AUTHOR]

Abstract Introduction Acute appendicitis is one of the most frequent intra-abdominal diseases requiring emergency surgical consult and treatment. The diagnosis of this condition is based on clinical features and radiologic findings. One-third of patients with acute appendicitis present unusual symptoms. There are several circumstances that may cause misdiagnosis and unclear prognostic prediction. Among these, situs viscerum inversus totalis and midgut malrotation can be challenging scenarios, leading to a delay in treatment, especially when these conditions are unknown. We decided to carry on a systematic review of published cases of acute appendicitis in the context of anatomical anomalies. Methods We used the MESH terms “appendicitis” AND “situs inversus” AND/OR “gut malrotation” to search for titles and abstracts. Inclusion criteria were patients with clinical and/or radiological diagnosis of acute appendicitis, with conservative or surgical management and with preoperative/intraoperative findings of situs viscerum inversus or gut malrotation. Additionally, previous reviews were examined. Exclusion criteria of the studies were insufficient patient clinical and demographic data. Results We included in this review 70 articles concerning 73 cases of acute appendicitis with anatomical anomaly. Patients were aged from 8 to 86 years (median: 27.0 years). 50 were male and 23 were female. 46 patients (63%) had situs viscerum inversus, 24 (33%) had midgut malrotation, 2 (2.7%) had Kartagener’s syndrome, one of them (1.4%) had an undetermined anomaly In 61 patients the anatomical anomaly was unknown previously (83.6%), while 16,4% already were aware of their condition. Conclusion Acute appendicitis can occur in association of rare anatomical anomalies and in these cases diagnosis can be challenging. Situs viscerum inversus and midgut malrotation should always be considered in the differential diagnosis of a patient with left lower quadrant pain, especially in younger population. Besides clinical features, it is fundamental to implement the diagnostic progress with radiological examination. Laparoscopic approach is useful to identify and treat acute surgical emergency and it is also a diagnostic tool and can be tailored in order to offer the best exposition of the operatory field for each single case.

Background The tracheal bronchus in Kartagener syndrome (KS) is a rare case that may cause difficulty in one-lung ventilation (OLV). Here we reported a case of successful OLV using bronchial blocker in a patient with tracheal bronchus and KS. Case A 66-year-old female patient with KS was admitted for left-side diaphragmatic plication. The patient’s preoperative computed tomography image showed a tracheal bronchus of the apical segment in the right upper lobe. The patient received epidural analgesia and general anesthesia through total intravenous anesthesia. An EZ-Blocker® (Teleflex Life Sciences Ltd., Ireland) was used to perform OLV. Conclusions OLV through an EZ-Blocker® can be successfully performed in tracheal bronchus patients with KS without side effects.

KARTAGENER SYNDROME (KS) is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. The mirrored anatomy and respiratory infections in patients with KS patients pose great challenges for anesthetic management. The aim of this review is to summarize published cases with the hope of helping anesthesiologists perform anesthesia in patients with KS more safely. A comprehensive literature search for all cases of anesthetic management of KS patients was performed in Pubmed, EMBASE, CNKI, and Wanfang Database. The extracted data included age, sex, type of surgery, preoperative treatment, type of anesthesia, anesthetic agents, airway management, central venous catheterization, transesophageal echocardiogram, reversal of neuromuscular blockade, adverse events during the surgery, and postoperative complications. The study authors included 82 single-case reports, 3 case series, and 1 case cohort, with a total number of 99 patients. The most common surgical procedures were thoracic surgery (51.5%), which was followed by ear, nose, and throat surgery (16.5%), and general surgery (14.5%). The preoperative treatment of the patients was reported in only 20 patients, and included antibiotics, bronchodilators, steroids, chest physiotherapy, and postural drainage. General anesthesia was performed for 85.4% of the surgeries, and regional anesthesia was performed in 14.6% of the cases. For nonthoracic surgery, an endotracheal tube was the most commonly used airway device. For thoracic surgery, a double-lumen tube was the most commonly used airway device. The intraoperative process was uneventful in most patients, and most patients recovered smoothly in the postoperative course. [ABSTRACT FROM AUTHOR]

BACKGROUND Primary ciliary dyskinesia (PCD) is a genetic condition affecting the structure and function of sperm flagellum and motile cilia including those in the male and female reproductive tracts. Infertility is a commonly reported feature of PCD, but there is uncertainty as to how best to counsel patients on their fertility prognosis. OBJECTIVE AND RATIONALE This review aimed to summarize the prevalence of subfertility, possible underlying mechanisms, and the success of ART in men and women with PCD. The efficacy of ART in this patient group is relatively unknown and, hence, the management of infertility in PCD patients remains a challenge. There are no previous published or registered systematic reviews of fertility outcomes in PCD. SEARCH METHODS Systematic literature searches were performed in Medline, Embase, Cochrane Library, and PubMed electronic databases to identify publications between 1964 and 2022 reporting fertility outcomes in men and women with PCD. Publications were excluded if they reported only animal studies, where gender was not specified or where subjects had a medical co-morbidity also known to impact fertility. Quality of evidence was assessed by critical appraisal and application of an appraisal tool for cross-sectional studies. The primary outcomes were natural conception in men and women with PCD, and conception following ART in men and women with PCD. OUTCOMES A total of 1565 publications were identified, and 108 publications were included after screening by two independent researchers. The quality of available evidence was low. The exact prevalence of subfertility in PCD is unclear but appears to be higher in men (up to 83% affected) compared to women (up to 61% affected). Variation in the prevalence of subfertility was observed between geographic populations which may be explained by differences in underlying genotype and cilia function. Limited evidence suggests subfertility in affected individuals is likely caused by abnormal cilia motion in the fallopian tubes, endometrium and efferent ductules, and dysmotile sperm. Some men and women with PCD benefited from ART, which suggests its use should be considered in the management of subfertility in this patient group. Further epidemiological and controlled studies are needed to determine the predictors of fertility and optimal management in this patient group. WIDER IMPLICATIONS It is important that patients with PCD receive evidence-based counselling about the potential impact of their condition on their fertility prognosis and what management options may be available to them if affected. Understanding the pathophysiology and optimal management of subfertility in PCD will increase our understanding of the role of cilia and the impact of wider secondary ciliopathies on reproduction. [ABSTRACT FROM AUTHOR]

IntroductionPrimary ciliary dyskinesia (PCD) is a rare genetic disorder that can result in significant morbidity and mortality if left untreated. Clinical manifestations of PCD include recurrent respiratory infections, laterality defects, and infertility, all of which arise from impaired or absent ciliary motility. Diagnostic approaches for PCD may include high-speed video microscopy, measurement of nasal nitric oxide levels, and genetic testing; however, no single definitive diagnostic test exists. The present study aims to highlight the lack of standardized diagnostic and treatment guidelines for PCD in Latin America (Central and South America, and the Caribbean). To this effect, we compared North American and European recommendations for the diagnosis and management of PCD and found that certain diagnostic tools and treatment options mentioned in these guidelines are not readily accessible in many Latin American countries.Methods & ResultsThis review gathers disease information in North America, Europe, and Latin America organizing guideline results into tables for clarity and potential interventions. Management information for Latin America is inferred from case reports, as most findings are from North American recommendations and studies on PubMed, Google Scholar, and Scopus. Treatment and management information is based on North American and European standards.Among 5,774 publications reviewed, only 15 articles met the inclusion criteria (focused on PCD management, peer-reviewed, and located in America). No clinical guideline for PCD in Latin America was found, but recommendations on respiratory management from Colombia and Chile were discovered. The lack of guidelines in Latin America may originate from limited resources and research on the disease in those countries.DiscussionPCD lacks documentation, research, and recommendations regarding its prevalence in Latin America, likely due to unfavorable economic conditions. This disadvantage results in limited access to diagnostic tests available in North America and Europe. The PICADAR score, discussed in this review, can be used in low-income nations as a screening tool for the disorder.

Introduction Primary ciliary dyskinesia (PCD) is a rare inherited disease associated with impairment of mucociliary transport and, consequently, with a high incidence of chronic rhinosinusitis. For patients with chronic rhinosinusitis who remain symptomatic despite medical treatment, endoscopic sinus surgery is a safe and effective therapeutic option. However, to date, no studies have been found evaluating the effect of surgery on the quality of life associated with the effect on olfaction and nasal endoscopy findings of patients with primary ciliary dyskinesia and chronic rhinosinusitis.

Introduction: Acute appendicitis is one of the most frequent intra-abdominal diseases requiring emergency surgical consult and treatment. The diagnosis of this condition is based on clinical features and radiologic findings. One-third of patients with acute appendicitis present unusual symptoms. There are several circumstances that may cause misdiagnosis and unclear prognostic prediction. Among these, situs viscerum inversus totalis and midgut malrotation can be challenging scenarios, leading to a delay in treatment, especially when these conditions are unknown. We decided to carry on a systematic review of published cases of acute appendicitis in the context of anatomical anomalies. Methods: We used the MESH terms "appendicitis" AND "situs inversus" AND/OR "gut malrotation" to search for titles and abstracts. Inclusion criteria were patients with clinical and/or radiological diagnosis of acute appendicitis, with conservative or surgical management and with preoperative/intraoperative findings of situs viscerum inversus or gut malrotation. Additionally, previous reviews were examined. Exclusion criteria of the studies were insufficient patient clinical and demographic data. Results: We included in this review 70 articles concerning 73 cases of acute appendicitis with anatomical anomaly. Patients were aged from 8 to 86 years (median: 27.0 years). 50 were male and 23 were female. 46 patients (63%) had situs viscerum inversus, 24 (33%) had midgut malrotation, 2 (2.7%) had Kartagener's syndrome, one of them (1.4%) had an undetermined anomaly In 61 patients the anatomical anomaly was unknown previously (83.6%), while 16,4% already were aware of their condition. Conclusion: Acute appendicitis can occur in association of rare anatomical anomalies and in these cases diagnosis can be challenging. Situs viscerum inversus and midgut malrotation should always be considered in the differential diagnosis of a patient with left lower quadrant pain, especially in younger population. Besides clinical features, it is fundamental to implement the diagnostic progress with radiological examination. Laparoscopic approach is useful to identify and treat acute surgical emergency and it is also a diagnostic tool and can be tailored in order to offer the best exposition of the operatory field for each single case. [ABSTRACT FROM AUTHOR]

This article presents a relevant clinical case of a 72-year-old female patient with recurrent episodes of acute abdomen. Two rare conditions were confirmed: Situs Inversus Totalis (SIT) and Cholelithiasis, leading to the scheduling of elective surgery. In addition, an association with Kartagener's syndrome is suspected, adding complexity to her medical condition. Situs Inversus Totalis is a rare congenital anomaly in which the internal organs are inverted compared to their normal anatomical position. The incidence varies, affecting an average of 1-2 of every 10,000-15,000 live births. Early detection of this condition is essential to guide the patient and medical staff in invasive procedures or surgeries. The patient presents cholelithiasis, which led to the planning of surgery to remove the gallbladder. The possible association with Kartagener's syndrome, characterized by situs inversus, chronic sinusitis, and bronchiectasis, adds complexity to clinical care, requiring a multidisciplinary approach. The report of this clinical case highlights the importance of early detection of Situs Inversus Totalis, especially when associated with other pathologies. [ABSTRACT FROM AUTHOR]

Introduction Primary ciliary dyskinesia is a rare inherited disease that results in a malfunction of mucociliary clearance and sinonasal complaints. Aplasia/hypoplasia of the frontal and sphenoid sinuses has been described as more frequent in this population. However, to date, no studies have provided a detailed description of computed tomography findings in adult patients with a diagnosis of this condition. Objective To describe the computed tomography (CT) findings of adult patients with primary ciliary dyskinesia. Methods Retrospective observational study of adult patients with primary ciliary dyskinesia who underwent CT. Results Twenty-one adults were included in the study. Aplasia occurred in 38.1% of frontal sinuses and in 14.3% of sphenoid sinuses. Likewise, hypoplasia occurred in 47.6% of the frontal sinuses, in 54.8% of the sphenoid sinuses and in 40.5% of the maxillary sinuses. Furthermore, trabecular loss was identified in 61.9% ethmoidal sinuses. The mean Lund-Mackay score was 13.5. In addition, 9.5% of the patients had concha bullosa, 47.6% had marked bilateral inferior turbinate hypertrophy, 38.1% had marked middle turbinate hypertrophy, and 47.6% had marked septal deviation. Finally, we identified images suggestive of fungus ball, mucocele, osteoma, a possible antrochoanal polyp, and frontal bone erosions. Conclusion The present study provides a detailed description of CT findings in patients with primary ciliary dyskinesia. We also describe abnormalities that must be identified for safer surgical planning and that suggest a diagnosis of primary ciliary dyskinesia if found in patients with a consistent clinical picture. [ABSTRACT FROM AUTHOR]

Copyright of Enfermería Investiga: Investigaciin, Vinculación, Docencia y Gestiin is the property of Revista Enfermeria Investiga and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Kartagener syndrome (KS) is a rare disease with an incidence of 1 in 20,000 to 30,000 births. There is no cure for KS, and conservative medical treatments are used to relieve symptoms and prevent disease progression. Lung transplantation (LT) is the only treatment option for end-stage KS. Since patients with KS have anatomical abnormalities such as situs inversus totalis, which often require surgery to correct, most reports are related to surgical techniques. Reports about morphological adaptations and changes in transplanted lung structure after LT in patients with KS are rare. We performed LT in a patient with KS and observed morphological adaptation of the lungs for 6 months on chest computed tomography using a quantitative evaluation tool (Chest Image Platform; Harvard University Disability Resources, Cambridge, MA, USA).

Introduction Primary ciliary dyskinesia is a rare inherited disease that results in a malfunction of mucociliary clearance and sinonasal complaints. Aplasia/hypoplasia of the frontal and sphenoid sinuses has been described as more frequent in this population. However, to date, no studies have provided a detailed description of computed tomography findings in adult patients with a diagnosis of this condition. Objective To describe the computed tomography (CT) findings of adult patients with primary ciliary dyskinesia. Methods Retrospective observational study of adult patients with primary ciliary dyskinesia who underwent CT. Results Twenty-one adults were included in the study. Aplasia occurred in 38.1% of frontal sinuses and in 14.3% of sphenoid sinuses. Likewise, hypoplasia occurred in 47.6% of the frontal sinuses, in 54.8% of the sphenoid sinuses and in 40.5% of the maxillary sinuses. Furthermore, trabecular loss was identified in 61.9% ethmoidal sinuses. The mean Lund-Mackay score was 13.5. In addition, 9.5% of the patients had concha bullosa, 47.6% had marked bilateral inferior turbinate hypertrophy, 38.1% had marked middle turbinate hypertrophy, and 47.6% had marked septal deviation. Finally, we identified images suggestive of fungus ball, mucocele, osteoma, a possible antrochoanal polyp, and frontal bone erosions. Conclusion The present study provides a detailed description of CT findings in patients with primary ciliary dyskinesia. We also describe abnormalities that must be identified for safer surgical planning and that suggest a diagnosis of primary ciliary dyskinesia if found in patients with a consistent clinical picture.

Kartagener syndrome (KS) is a rare type of primary ciliary dyskinesia, which comprises a triad of chronic sinusitis, situs inversus, and bronchiectasis. It has a heterogeneous inheritance, mainly inherited as an autosomal recessive disorder, causing functional defect in ciliary movement. Bronchial asthma (BA) is a disease where there is a chronic inflammation of airways along with hyperreactive airways with variable airflow obstruction. We are reporting a case of a 36-year-old man with chronic sinusitis, situs inversus totalis, bronchiectasis, and well-controlled asthma. This case report orients toward the fact that KS can present with BA which makes this case idiosyncratic. Moreover, the veracious takeaway lesson is that early diagnosis will improve the quality of life of the patients and reduce the complexities of the disease, thus will bring down the morbidity and mortality of the patients.

Background: Chronic or recurrent mucoid respiratory tract symptoms may be difficult to diagnose. Method: Ninety-two children with chronic respiratory symptoms were divided into 4 groups: 18 children with refractory asthma, 10 with bronchiectasis without dextrocardia, 18 with dextrocardia and 46 with recurrent respiratory tract infections. Except for five neonates, cytology samples were taken under general anaesthesia. Ciliary beat frequency was measured photometrically and analysed by in-house computer software. Results: Nasal polyps were found in one child with normal ciliary beat frequency. Twenty-six children had no beating cilia (male to female ratio, 15:11). The effect of increasing temperature on the ciliary beat frequency of the remaining 66 patients was evaluated (42 patients, more than 30°C, median, 8.3 Hz; 24 patients, 30–37°C, median, 11.8 Hz; p = 0.0003). Conclusion: The measurement of ciliary beat frequency is part of the diagnostic work up of patients with persistent or recurrent respiratory tract infections. [ABSTRACT FROM AUTHOR]

Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD diagnosis was improved after the inclusion of diagnostic tools, such as transmission electron microscopy and genetic screening; however, the PCD screening is a challenge yet. In this context, we aimed to describe the clinical, genetic, and ultra-ciliary characteristics in individuals with clinical suspicion of PCD (cPCD) from a Brazilian Tertiary Hospital. An observational study was carried out with individuals during the follow-up between 2011 and 2021. The individuals were submitted to clinical questionnaires, transmission electron microscopy, and genetic screening for pathogenic variants in PCD-related genes. Those patients were classified according to the degree of suspicion for PCD. In our study, we enrolled thirty-seven cPCD individuals; 20/37 (54.1%) had chronic rhinosinusitis, 28/37 (75.6%) had bronchiectasis, and 29/37 (78.4%) had recurrent pneumonia. A total of 17/37 (45.9%) individuals had transmission electron microscopy or genetic confirmation of PCD; 10 individuals had at least one positive pathogenic genetic variant in the PCD-related genes; however, only seven patients presented a conclusive result according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology with two pathogenic variants in homozygous or compound heterozygous. The median age at diagnosis was 13 years, and the median time between suspicion and diagnosis was four years. Sixteen patients had class I electron microscopy alterations, seven had class II alterations, and 14 had normal transmission electron microscopy according to the international consensus guideline for reporting transmission electron microscopy results in the diagnosis of PCD (BEAT-PCD TEM Criteria). Genetic screening for pathogenic variants in PCD-related genes and transmission electron microscopy can help determine the PCD diagnosis; however, they are still unavailable to all individuals with clinical suspicion in Brazil. We described ultrastructural alterations found in our population along with the identification of pathogenic variants in PCD-related genes. [ABSTRACT FROM AUTHOR]