spectrum of patients
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2022 ◽  
pp. jrheum.211233
Author(s):  
Lisa Zickuhr ◽  
Brian F. Mandell

Health disparities in the delivery and outcomes of clinical care exist across the spectrum of patients with rheumatic diseases. In a retrospective analysis of the Corrona registry, patients with rheumatoid arthritis identifying as racial or ethnic minorities achieved lower rates of remission or low disease activity scores and reported poorer functional status compared to White patients.1


Author(s):  
Sibtain Ahmed ◽  
Fizza Akbar ◽  
Amyna Jaffar Ali ◽  
Bushra Afroze

Abstract Objectives Evaluation of clinical, biochemical and molecular analysis of Pakistani patients with hepatic GSDs. Methods Medical charts, biochemical, histopathological and molecular results of patients with hepatic GSD were reviewed. Results Out of 55 GSD patients, 41 (74.5%) were males and 14 (25.5%) were females with consanguinity in 50 (91%) patients. The median age of initial symptoms, clinic diagnosis and molecular diagnosis were 450 (IQR: 270–960), 1,095 (IQR: 510–1,825) and 1717 (IQR: 796–3,011) days, respectively. Molecular analysis and enzyme activity was available for 33 (60%) and two patients, respectively. GSD III (n=9) was most prevalent followed by GSD Ib (n=7), GSD IXc (n=6), GSD VI (n=4), GSD Ia (n=3), GSD XI (n=3), GSD IXb (n=2) and GSD IXa (n=1). In patients (n=33) who underwent molecular analysis; 19 different variants in eight genes associated with GSD were identified. We also report five novel variants, two in SLC37A4, one in AGL and two in PYGL contributing to the diagnosis of GSD Ib, GSD III and GSD VI, respectively. Conclusions Fifty-five patients of GSDs in 26 families from a single care provider indicate a relatively high frequency of GSD in Pakistan, with multiple unrelated families harboring identical disease-causing variants, on molecular analysis, including two known pathogenic variants in SLC37A4 and PHKG2, and a novel variant in AGL.


2022 ◽  
Author(s):  
Ja Hye Kim ◽  
Yunha Choi ◽  
Soojin Hwang ◽  
Gu-Hwan Kim ◽  
Han-Wook Yoo ◽  
...  

Objective: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This study aimed to investigate the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations. Methods: The clinical features and endocrine findings from 30 patients with CHD7 variants were retrospectively reviewed. A diagnosis of CHARGE syndrome was based on the Verloes diagnostic criteria. Results: Seventeen patients fulfilled the criteria for typical CHARGE syndrome, one patient for partial/incomplete CHARGE, and the remaining 11 patients had atypical CHARGE syndrome. One patient was diagnosed with Kallmann syndrome and unilateral deafness. The most frequently observed features were inner ear anomalies (80.0%), intellectual disability (76.7%), and external ear anomalies (73.3%). The mean height and weight SDSs at diagnosis were -2.6 ± 1.3 and -2.2 ± 1.8, respectively. Short stature was apparent in 18 patients (60%), and one patient was diagnosed with growth hormone deficiency. Seventeen males showed genital hypoplasia, including micropenis, cryptorchidism, or both. Seven patients after pubertal age had hypogonadotropic hypogonadism with hyposmia/anosmia and olfactory bulb hypoplasia. Truncating CHD7 mutations were the most common (n = 22), followed by missense variants (n = 3), splice-site variants (n = 2), and large deletion (n = 2). Conclusions: A diverse phenotypic spectrum was observed in patients with CHD7 variants, and endocrine defects such as short stature and delayed puberty occurred in most patients. Endocrine evaluation, especially for growth and pubertal impairment, should be performed during diagnosis and follow-up to improve the patient’s quality of life.


Author(s):  
Matthias Cornelius Schaal ◽  
Jörg Detlev Moritz ◽  
Hans-Joachim Mentzel ◽  
Meinrad Beer

Sonography is the most common imaging modality in childhood and adolescence. The rapid availability, absence of X-rays, bedside applicability, e. g., in intensive care units, the lack of need for sedation, and last but not least the very good ultrasound conditions in the vast majority of cases are the main advantages of sonography. Due to the spectrum of patients, from premature infants to adolescents, a great variety of questions arise for the examiner. This requires knowledge of the various disease patterns in the different age groups. Proper handling of the young patients as well as their parents is essential in order to make the examination conditions as optimal as possible. Due to the smaller body size compared to adults, sonographic examinations of the abdomen and thorax in children and adolescents are usually possible with very good image quality. In the majority of cases, a definitive diagnosis is made by sonography without additional cross-sectional imaging, which is more common in adults. Due to the acoustic windows provided by the still open fontanelles, excellent image quality of the central nervous system is usually possible in the first year of life. In most cases, complex MRI examinations are not necessary. Due to the partly still missing ossification of the bony structures, further acoustic windows are available, which allow an examination of, e. g., the spinal canal. Ultrasound also plays a major role in the examination of soft tissues and the musculoskeletal system in childhood and adolescence, not only in hip ultrasound. The aim of this article is to show this very broad spectrum for colleagues working predominantly in adult radiology, to highlight some representative examples and to present the respective clinical features in childhood and adolescence. Key Points:  Citation Format


2021 ◽  
Vol 62 (15) ◽  
pp. 4
Author(s):  
Tianchang Tao ◽  
Ningda Xu ◽  
Jiarui Li ◽  
Hongyan Li ◽  
Jinfeng Qu ◽  
...  

2021 ◽  
Vol 12 ◽  
Author(s):  
Rishika P. Sakaria ◽  
Parul G. Zaveri ◽  
Shannon Holtrop ◽  
Jie Zhang ◽  
Chester W. Brown ◽  
...  

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.


2021 ◽  
Vol 12 ◽  
Author(s):  
Shu Zhang ◽  
Lin Lei ◽  
Zhirong Fan ◽  
Shengyao Su ◽  
Jianying Duo ◽  
...  

Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as highly consistent and little attention has been given to the extramuscular abnormalities.Methods: We reported clinical, histopathological, and genetic features of four Chinese patients with SEPN1-RM and performed literature review on delayed respiratory insufficiency and extramuscular involvement.Results: A total of four patients exhibited both the typical and atypical clinical features of SEPN1-RM. The classical manifestations included axial and limb girdle weakness, spinal rigidity, scoliosis, respiratory insufficiency, and multiminicore morphological lesions. However, high interindividual variability was noticed on disease severity, especially the onset of respiratory involvement. Two adult patients postponed respiratory insufficiency to the third decade of life, while two juvenile patients manifested early hypoventilation with puberty exacerbation. As atypical features, extramuscular involvement of weight gain, subcutaneous adipose tissue accumulation, intellectual disability, and mild cardiac changes were observed. Molecular findings revealed three novel mutations of SELENON such as c.1286_1288 del CCT, c.1078_1086dupGGCTACATA, and c.785 G>C. Ten cases with delayed respiratory insufficiency were identified from previous publications. A total of 18 studies described extramuscular abnormalities including joint contractures, alterations of body mass index (BMI), mild cardiac changes, and insulin resistance. Intellectual impairment was extremely rare.Conclusion: SEPN1-RM should be considered as a differential diagnosis in adult patients with delayed respiratory involvement. Extramuscular involvement such as body composition alterations deserves more clinical attention. The novel mutations of SELENON widened the genetic spectrum of patients with SEPN1-RM.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Isabell Gragoll ◽  
Lukas Schumann ◽  
Monique Neubauer ◽  
Christina Westphal ◽  
Hermann Lang

Abstract Background The treatment of acute pain is part of everyday dental practice. Often, these symptoms result from years of patients' inadequate or missing dental routines and lead to a reduction in the quality of life or health of the patients and to high costs for the health care system. Despite the enormous advantages of modern dentistry, many patients avoid going to the dentist. Therefore, the study aimed to determine the reasons and behaviours that cause patients to avoid visits to the dentist. Methods We conducted semi-structured interviews with patients who had an above-average DMFT index and had been going to the dentist only irregularly for years. The sample participants were recruited from the northern German region of Mecklenburg-Western Pomerania. 20 individual interviews were recorded, transcribed verbatim and coded. We used a qualitative framework approach to code the transcripts in order to establish a consensus among the researchers. Ultimately, through discussions and reviews of the attributes and meaning of the topics, a typology could be established. Results A typology of patients who avoid the dentist was developed. Four independent characteristic patterns of dentist avoidance could be developed: avoiding the dentist due to "distance" (type A; includes subtype A1 "avoiding the dentist due to negligence" and subtype A2 "dental avoidance due to neutralization"), "disappointment" (type B), "shame" (type C), and "fear" (type D). Using the typology as a generalised tool to determine the minimum and maximum contrasts, it was possible to capture the diversity and multidimensionality of the reasons and behaviours for avoidance. All patients had negative dental experiences, which had led to different avoidance patterns and strategies. Conclusions The identified avoidance characteristics represent a spectrum of patients from Northern Germany who avoid going to the dentist. This is the first comprehensive study in Germany representing avoidance behaviour of dentist patients in the form of a typology. The results suggest that dentistry also needs qualitative research to better understand patient characteristics and provide direct access to patients who avoid regular dental visits. Thus, the results make a potentially fundamental contribution to the improvement of dental care and enrich its understanding.


PeerJ ◽  
2021 ◽  
Vol 9 ◽  
pp. e12338
Author(s):  
Yeelon Yeoh ◽  
Teck Yew Low ◽  
Nadiah Abu ◽  
Pey Yee Lee

Resistance to anti-cancer treatments is a critical and widespread health issue that has brought serious impacts on lives, the economy and public policies. Mounting research has suggested that a selected spectrum of patients with advanced colorectal cancer (CRC) tend to respond poorly to both chemotherapeutic and targeted therapeutic regimens. Drug resistance in tumours can occur in an intrinsic or acquired manner, rendering cancer cells insensitive to the treatment of anti-cancer therapies. Multiple factors have been associated with drug resistance. The most well-established factors are the emergence of cancer stem cell-like properties and overexpression of ABC transporters that mediate drug efflux. Besides, there is emerging evidence that signalling pathways that modulate cell survival and drug metabolism play major roles in the maintenance of multidrug resistance in CRC. This article reviews drug resistance in CRC as a result of alterations in the MAPK, PI3K/PKB, Wnt/β-catenin and Notch pathways.


Author(s):  
Giancarlo Agnelli ◽  
Andrés Muñoz ◽  
Laura Franco ◽  
Isabelle Mahé ◽  
Benjamin Brenner ◽  
...  

AbstractEfficacy and safety of anticoagulant treatment for venous thromboembolism (VTE) may vary in patients with different cancer sites. We evaluated the rates of VTE recurrence and major bleeding and the relative efficacy and safety of 6-month treatment with oral apixaban or subcutaneous dalteparin in patients with different cancer sites randomized in the Caravaggio study. Primary cancer was located at gastrointestinal sites in 375 patients (32.5%), lung in 200 (17.3%), breast in 155 (13.4%), genitourinary sites in 139 (12%), gynecological sites in 119 (10.3%), and was hematological in 85 patients (7.4%). Rates of VTE recurrence were 10.9% in patients with gynecological, 8.8% with gastrointestinal, 6.5% with genitourinary, and 5.5% with lung cancer with lower rates in the other sites of cancer. Rates of major bleeding were 7.2% in patients with genitourinary and 4.8% with gastrointestinal cancer, with lower rates in patients with other sites of cancer. The observed absolute risk difference in VTE recurrence in favor of apixaban was 11.9% in patients with gynecological, 5.5% with lung, 3.7% with genitourinary cancer, and 0.6% with gastrointestinal cancer. None of the risk differences was statistically significant. The rates of major bleeding in patients treated with apixaban or dalteparin was similar across patients with different cancer sites. In conclusion, recurrences appear to be more common in patients with gastrointestinal and gynecological cancer and major bleedings in patients with genitourinary and gastrointestinal cancer. Oral apixaban is a valid oral alternative to subcutaneous dalteparin for the treatment of a large spectrum of patients with cancer-associated VTE.


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