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Cureus Sep 2023Bladder agenesis is a rare congenital deformity characterized by the absence of the bladder. It is primarily observed in postmortem dissections of stillbirths rather... (Review)
Review
Bladder agenesis is a rare congenital deformity characterized by the absence of the bladder. It is primarily observed in postmortem dissections of stillbirths rather than live births. The condition is often associated with other congenital anomalies, leading to the hypothesis that most affected fetuses do not survive to term. However, the exact cause and specific associated anomalies remain unclear and poorly described in the literature. The limited mention of bladder agenesis in textbooks and literature underscores the importance of creating a comprehensive source for future research in this field. Therefore, our objective is to collect and analyze data on bladder agenesis, focusing on associated anomalies and potential causes, to enhance our understanding of the condition. We conducted a thorough review of reports collected from three databases, Google Scholar, PubMed, and Science Direct, last searched on July 30, 2023, starting with 327 reports. Excluding duplicates and records written in languages other than English, veterinary studies, irrelevant reports, or stillbirths. Inclusion criteria were the following: cases must have proven bladder agenesis, not hypoplasia, and must have most of the information, including the age of diagnosis, presenting symptoms, gender, associated anomalies, and management or outcome of the patient. A quality assessment was conducted according to the Joanna Briggs Institute checklist for case reports. A total of 65 case reports from 56 articles were included in the review. Through our manual analysis, we documented a wild array of malformations associated with bladder agenesis. Among the reports reviewed, 93% exhibited urinary system malformations beside bladder agenesis, 77% were found to have reproductive malformations, 44% had gastrointestinal anomalies, 38% showed musculoskeletal malformations, 28% had cardiac malformations, and another 28% had vascular anomalies. The overall mortality rate was 38%, with a higher rate of 74% for males compared to 20% for females. By collating and analyzing those case reports, we aim to contribute to a better understanding of bladder agenesis and its associated anomalies, facilitating further investigations and advancements in the field.
PubMed: 37842406
DOI: 10.7759/cureus.45121 -
Annals of the Rheumatic Diseases Jun 2017Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with gene mutations and increased interleukin-1 (IL-1) secretion. Early... (Review)
Review
Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with gene mutations and increased interleukin-1 (IL-1) secretion. Early diagnosis and rapid initiation of IL-1 inhibition prevent organ damage. The aim of the study was to develop and validate diagnostic criteria for CAPS. An innovative process was followed including interdisciplinary team building, item generation: review of CAPS registries, systematic literature review, expert surveys, consensus conferences for item refinement, item reduction and weighting using 1000Minds decision software. Resulting CAPS criteria were tested in large cohorts of CAPS cases and controls using correspondence analysis. Diagnostic models were explored using sensitivity analyses. The international team included 16 experts. Systematic literature and registry review identified 33 CAPS-typical items; the consensus conferences reduced these to 14. 1000Minds exercises ranked variables based on importance for the diagnosis. Correspondence analysis determined variables consistently associated with the diagnosis of CAPS using 284 cases and 837 controls. Seven variables were significantly associated with CAPS (p<0.001). The best diagnosis model included: Raised inflammatory markers (C-reactive protein/serum amyloid A) plus ≥two of six CAPS-typical symptoms: urticaria-like rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis and skeletal abnormalities. Sensitivity was 81%, specificity 94%. It performed well for all CAPS subtypes and regardless of mutation. The novel approach integrated traditional methods of evidence synthesis with expert consensus, web-based decision tools and innovative statistical methods and may serve as model for other rare diseases. These criteria will enable a rapid diagnosis for children and adults with CAPS.
Topics: Biomarkers; Bone and Bones; C-Reactive Protein; Chronic Disease; Cryopyrin-Associated Periodic Syndromes; Hearing Loss, Sensorineural; Humans; Meningitis, Aseptic; Musculoskeletal Diseases; Serum Amyloid A Protein; Urticaria
PubMed: 27707729
DOI: 10.1136/annrheumdis-2016-209686 -
Children (Basel, Switzerland) Dec 2023A single congenital muscular torticollis (CMT) is a postural musculoskeletal deformity and is characterized by the shortening or stiffness of the sternocleidomastoid... (Review)
Review
A single congenital muscular torticollis (CMT) is a postural musculoskeletal deformity and is characterized by the shortening or stiffness of the sternocleidomastoid muscle. The reported incidence of CMT ranges from 0.2% to 2%. The objective is to evaluate the effect of physical therapy programs on CMT. For the search, PubMed, Scopus, Web of Science, PEDro and Cochrane databases were used. Randomized controlled trials published between 2018 and 2023 have been included. This study follows the PRISMA 2020 statement and has been registered in the PROSPERO database. Finally, six studies were included. The cervical range of motion (ROM) in rotation was the most analyzed variable, followed by the ultrasound evaluation; one of the studies included the analysis of children's motor development with the Alberta scale. All research found benefits associated with soft tissue mobilization, passive stretching techniques and manual therapy of the cervical spine. In conclusion, it is possible to recommend manual therapy and passive stretching techniques for the treatment of CMT, with significant results on the cervical ROM.
PubMed: 38275429
DOI: 10.3390/children11010008 -
Global Spine Journal Sep 2019Systematic review (Level 4). (Review)
Review
STUDY DESIGN
Systematic review (Level 4).
OBJECTIVE
To summarize the demographics, clinical presentations, and conditions associated with butterfly vertebrae.
METHODS
A systematic search was performed of multiple databases. A total of 279 articles were identified for screening. Case series or case reports of butterfly vertebrae with adequate clinical detail were complied.
RESULTS
Eighty-two total articles (109 patients) were selected for final inclusion. Sixty-one percent of patients presented with a single butterfly vertebra, while 39% were multiple. The most common location for butterfly vertebrae was T1. Fifty-six percent of cases were associated with a syndrome, the most common being spondylocostal dysostosis. The presence of multiple butterfly vertebra was strongly associated with a syndrome or additional anomalies ( < .001). Overall, the most common presenting complaint was low back pain. Seventy percent of patients had associated spinal disease. Other organ systems affected included musculoskeletal (43%), craniofacial (30%), neurologic (27%), cardiovascular (24%), genitourinary (23%), gastrointestinal (22%), laboratory abnormality (16%), and endocrine (9%).
CONCLUSIONS
This study is the largest collection of butterfly vertebrae cases to date. Butterfly vertebrae are associated with spinal deformity and multiple butterfly vertebrae may indicate a syndromic illness. Low back pain or disc herniation may occur with lumbar butterfly vertebrae however the etiology of this phenomena has not been rigorously explained. Many diseases and syndromes are associated with butterfly vertebrae.
PubMed: 31448202
DOI: 10.1177/2192568218801016 -
Seminars in Arthritis and Rheumatism Feb 2023Anecdotally, fibromyalgia syndrome (FMS) and connective tissue disorders (hypermobile Ehlers-Danlos Syndrome (hEDS), Hypermobility Spectrum disorders (HSD) and... (Review)
Review
BACKGROUND
Anecdotally, fibromyalgia syndrome (FMS) and connective tissue disorders (hypermobile Ehlers-Danlos Syndrome (hEDS), Hypermobility Spectrum disorders (HSD) and Generalized Joint Hypermobility (GJH)) manifest overlap in their diagnostic approach and symptomatic features. Understanding this overlap is important for accurate diagnosis and the success of subsequent management. This study therefore aimed to identify the prevalence of concomitant diagnosis of FMS and hEDS/HSD/GJH in adults and their shared symptomatic manifestations using a systematic review.
METHODS
MEDLINE (via EBSCO host) was systematically searched. Observational research (case-control or single group) studies were considered for inclusion, where adults screened for hEDS/HSD/GJH and FMS were compared in terms of diagnostic prevalence, and musculoskeletal and non-musculoskeletal manifestations. Studies on pediatric populations were excluded. The quality of the included studies was assessed using the National Institute of Health Quality Assessment of Case-Control Studies and Jonna Briggs Critical Appraisal checklist for prevalence studies. The review was registered prospectively in PROSPERO (CRD42020216283).
FINDINGS
The review included eleven studies: nine case-control studies and two single group studies. The prevalence of concomitant diagnosis of hEDS/HSD and FMS ranged from 68%-88.9% and from 8.0 to 64.2% for GJH and FMS. The prevalence and severity of a range of objective and patient-reported features were similar between hEDS/HSD and FMS, including joint pain (duration, persistence, SF-36-pain component score); joint swelling; muscle weakness; neurological problems; multidimensional pain inventory-activity; dysautonomia and total autonomic symptoms burden (including orthostatic intolerance, reflex syncope, vasomotor, gastrointestinal, diarrhea, constipation and pupillomotor domains); function; and quality of life. Shared symptomatic features between GJH and FMS were mean pain level, tender points count, total myalgia score and psychological impact.
INTERPRETATION
There may be overlapping symptomatology and diagnostic prevalence of FMS and hEDS/HSD/GJH. Clinicians should consider both diagnoses to ensure appropriate diagnosis and management.
Topics: Adult; Child; Humans; Fibromyalgia; Quality of Life; Connective Tissue Diseases; Ehlers-Danlos Syndrome; Joint Instability; Myalgia; Connective Tissue
PubMed: 36462303
DOI: 10.1016/j.semarthrit.2022.152127 -
European Journal of Pediatrics May 2023to review recent literature concerning long-term health issues and transitional care in esophageal atresia (EA) patients. PubMed, Scopus, Embase and Web of Science... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
to review recent literature concerning long-term health issues and transitional care in esophageal atresia (EA) patients. PubMed, Scopus, Embase and Web of Science databases were screened for studies regarding EA patients aged more than or equal to 11 years, published between August 2014 and June 2022. Sixteen studies involving 830 patients were analyzed. Mean age was 27.4 years (range 11-63). EA subtype distribution was: type C (48.8%), A (9.5%), D (1.9%), E (0.5%) and B (0.2%). 55% underwent primary repair, 34.3% delayed repair, 10.5% esophageal substitution. Mean follow-up was 27.2 years (range 11-63). Long-term sequelae were: gastro-esophageal reflux (41.4%), dysphagia (27.6%), esophagitis (12.4%), Barrett esophagus (8.1%), anastomotic stricture (4.8%); persistent cough (8.7%), recurrent infections (4.3%) and chronic respiratory diseases (5.5%). Musculo-skeletal deformities were present in 36 out of 74 reported cases. Reduced weight and height were detected in 13.3% and 6% cases, respectively. Impaired quality of life was reported in 9% of patients; 9.6% had diagnosis or raised risk of mental disorders. 10.3% of adult patients had no care provider. Meta-analysis was conducted on 816 patients. Estimated prevalences are: GERD 42.4%, dysphagia 57.8%, Barrett esophagus 12.4%, respiratory diseases 33.3%, neurological sequelae 11.7%, underweight 19.6%. Heterogeneity was substantial (> 50%). Conclusion: EA patients must continue follow-up beyond childhood, with a defined transitional-care path by a highly specialized multidisciplinary team due to the multiple long-term sequelae.
WHAT IS KNOWN
• Survival rates of esophageal atresia patients is now more than 90% thanks to the improvements in surgical techniques and intensive care, therefore patients' needs throughout adolescence and adulthood must be taken into account.
WHAT IS NEW
• This review, by summarizing recent literature concerning long term sequelae of esophageal atresia, may contribute to raise awareness on the importance of defining standardized protocols of transitional and adulthood care for esophageal atresia patients.
Topics: Adolescent; Adult; Child; Humans; Middle Aged; Young Adult; Barrett Esophagus; Deglutition Disorders; Disease Progression; Esophageal Atresia; Follow-Up Studies; Gastroesophageal Reflux; Quality of Life; Transitional Care
PubMed: 36905437
DOI: 10.1007/s00431-023-04893-6 -
Journal of Developmental and Behavioral... Jan 2017Deformational plagiocephaly (includes plagiocephaly and brachycephaly) is a common pediatric condition. Infants who present with altered head shape often experience... (Review)
Review
OBJECTIVE
Deformational plagiocephaly (includes plagiocephaly and brachycephaly) is a common pediatric condition. Infants who present with altered head shape often experience developmental delay. It is uncertain how common developmental delay is in infants with plagiocephaly and how sustained this is, when present. This review explores the association between plagiocephaly and developmental delay to guide clinical practice.
STUDY DESIGN
A systematic review was conducted. MEDLINE, EMBASE, CINAHL, and PEDro databases were searched. Data from relevant studies were extracted regarding study: sample, follow-up, design, and findings. Methodological quality of each study was rated using a critical appraisal tool.
RESULTS
The search recovered 1315 articles of which 19 met the inclusion criteria. In the included studies, the children's ages ranged from 3 months to 10 years. Study limitations included selection bias, nonblinding of assessors, and reuse of the same study population for multiple papers. Most papers (11/19) rated "moderate" on methodological quality. A positive association between plagiocephaly and developmental delay was reported in 13 of 19 studies, including 4 of 5 studies with "strong" methodological quality. Delay was more frequently in studies with children ≤24 months of age (9/12 studies) compared with >24 months of age (3/7 studies). Motor delay was the most commonly affected domain reported in high-quality papers (5/5 studies).
CONCLUSION
This review suggests plagiocephaly is a marker of elevated risk of developmental delays. Clinicians should closely monitor infants with plagiocephaly for this. Prompt referral to early intervention services such as physiotherapy may ameliorate motor delays and identify infants with longer term developmental needs.
Topics: Child; Child, Preschool; Developmental Disabilities; Humans; Infant; Plagiocephaly
PubMed: 28009719
DOI: 10.1097/DBP.0000000000000376 -
Rheumatology (Oxford, England) Sep 2017To systematically review the role of musculoskeletal US in patients suffering from PsA or psoriasis (Pso) in terms of prevalence, diagnosis, prognosis, monitoring and... (Review)
Review
OBJECTIVE
To systematically review the role of musculoskeletal US in patients suffering from PsA or psoriasis (Pso) in terms of prevalence, diagnosis, prognosis, monitoring and treatment.
METHODS
A systematic literature review was conducted through medical databases (MEDLINE via PubMed, Embase) and the grey literature up to September 2015 to inform a new study of the Musculoskeletal Ultrasound Study Group of the Italian Society for Rheumatology. All articles reporting data on musculoskeletal US in PsA or Pso were included and extracted according to the underlying clinical question.
RESULTS
A total of 86 publications were included. The prevalence of US abnormalities showed a wide range for each examined feature (e.g. 37-95% for entheses thickness of the lower limbs). The performance of US for diagnosis of disease or elementary lesions was variable across studies, but no study evaluated the overall performance of US in addition to clinical findings for diagnosing PsA. Considering US in defining PsA and Pso prognosis, several works focused on US of entheses of lower limbs in Pso, while for the monitoring of PsA activity five different scoring systems were identified. Last, the results of the role of US in guiding intra-articular interventions were controversial for the clinical outcomes, but in favour of US for accuracy.
CONCLUSION
despite the recognized importance of US in the management of PsA and Pso, this review clearly demonstrated the need of pivotal research in order to optimize the use of US in the diagnosis and monitoring of psoriatic disease.
Topics: Arthritis, Psoriatic; Humans; Musculoskeletal System; Prevalence; Prognosis; Psoriasis; Sensitivity and Specificity; Ultrasonography; Ultrasonography, Interventional
PubMed: 28521047
DOI: 10.1093/rheumatology/kex179 -
The Journal of Foot and Ankle Surgery :... 2022There are various treatment approaches for the subjects with metatarsus adductus, including nonsurgical and surgical treatment. Nonsurgical treatments such as serial... (Review)
Review
There are various treatment approaches for the subjects with metatarsus adductus, including nonsurgical and surgical treatment. Nonsurgical treatments such as serial casting, modified shoes (Bebax shoe, Ipos antiadductus shoe) and orthoses (Wheaton brace, counter rotation system splint, Denis Brown bar, and Fillauer bar) are widely used in this regard. The main question posted here is which orthoses are more effective in correcting metatarsus adductus. Therefore, the aim of this review was to determine the efficiency of various nonsurgical treatments used for metatarsus adductus. MEDLINE/PubMed, EMBASE, Cochrane Central Register of Controlled Trial, Cochrane Data base of systematic review (CDSR), Scopus and ISI Web of knowledge (from 1960 to 2021) were searched by predefined search strategies to screen eligible randomized controlled studies meeting established criteria. The quality of the studies was assessed based on Down and Black tool. 200 studies on this topic were reviewed and finally 11 studies which met the inclusion criteria were selected for final analysis. These studies evaluated the efficiency of nonsurgical treatment options on foot angle and deformity correction in the subjects with metatarsus adductus. Quality of the papers based on Downs and Black tool varied between 13 and 23. Some treatments such as Wheaton brace, rigid strap, exercise (manipulation), reverse last shoe and plaster cast are used for these subjects. Although good correction can be achieved with use of these treatment methods, some of them have complications which should be considered in this regard. It seems that Wheaton brace and Bebax shoe have fewer complications compared to other methods.
Topics: Casts, Surgical; Conservative Treatment; Humans; Metatarsal Bones; Metatarsus; Metatarsus Varus; Shoes
PubMed: 35216881
DOI: 10.1053/j.jfas.2022.01.016 -
European Spine Journal : Official... Nov 2023The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence.
METHODS
A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria.
RESULTS
A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39-32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54-23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180).
CONCLUSIONS
The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies.
Topics: Humans; Male; Female; Scoliosis; Incidence; Retrospective Studies; Cohort Studies; Urogenital Abnormalities
PubMed: 37572143
DOI: 10.1007/s00586-023-07889-w