Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy

Abstract Objective Sonographic clues to the diagnosis of congenital myotonic dystrophy (CDM) are limited, particularly in the absence of family history of myotonic dystrophy (DM). We reviewed cases of CDM for unique prenatal findings. Study Design A single-center case series of fetuses with CMD with characteristic prenatal findings confirmed postnatally. Results Four fetuses with pre- or postnatally diagnosed CDM presented with macrocephaly in utero. While head measurements were appropriate for gestational age until midgestation, third-trimester head circumference and biparietal diameter were both >2 standard deviation (SD) above the mean in all. Abdominal and femur measurements were otherwise appropriate for gestation. Postnatally, the occipitofrontal circumference was >2 SD above the mean in all, confirming the diagnosis of macrocephaly. Conclusion CDM should be included in the differential diagnosis of third-trimester macrocephaly, especially in the presence of additional sonographic clues and when maternal medical history and physical examination are suggestive of DM.

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Sialendoscopy With Intraductal Steroid Irrigation in Patients With Sialadenitis Without Sialoliths

Ear Nose & Throat Journal ◽

10.1177/0145561319841207 ◽

2019 ◽

Vol 98 (5) ◽

pp. 291-294 ◽

Cited By ~ 4

Author(s):

Saudamini J. Lele ◽

Mickie Hamiter ◽

Torrey Louise Fourrier ◽

Cherie-Ann Nathan

Keyword(s):

Treatment Option ◽

Case Series ◽

Complete Response ◽

Definitive Treatment ◽

Invasive Technique ◽

Effective Treatment Option ◽

Patient Reported ◽

History Of ◽

The Mean

Sialendoscopy has emerged as a safe, effective and minimally invasive technique for management of obstructive and inflammatory salivary gland disease. The aim of our study was to analyze outcomes of sialendoscopy and steroid irrigation in patients with sialadenitis without sialoliths. We performed a retrospective analysis of patients who underwent interventional sialendoscopy with steroid irrigation from 2013 to 2016, for the treatment of sialadenitis without sialolithiasis. Twenty-two patients underwent interventional sialendoscopy with ductal dilation and steroid irrigation for the treatment of sialadenitis without any evidence of sialolithiasis. Conservative measures had failed in all. Eleven patients had symptoms arising from the parotid gland, 4 patients had symptoms arising from the submandibular gland, while 6 patients had symptoms in both parotid and submandibular glands. One patient complained of only xerostomia without glandular symptoms. The mean age of the study group which included 1 male and 21 females was 44.6 years (range: 3-86 years). Four patients had autoimmune disease, while 7 patients had a history of radioactive iodine therapy. No identifiable cause for sialadenitis was found in the remaining 11 patients. The mean follow-up period was 378.9 days (range: 16-1143 days). All patients underwent sialendoscopy with ductal dilation and steroid irrigation. Twelve patients showed a complete response and 9 patients had a partial response, while 1 patient reported no response. Only 3 patients required repeat sialendoscopy. The combination of sialendoscopy with ductal dilation and steroid irrigation is a safe and effective treatment option for patients with sialadenitis without sialoliths refractory to conservative measures. Prospective studies with a larger case series are needed to establish its role as a definitive treatment option.

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Frequency, Predictors, and Outcome of Seizures in Patients With Myelomeningocele: Single-Center Retrospective Cohort Study

Journal of Child Neurology ◽

10.1177/08830738211053132 ◽

2021 ◽

pp. 088307382110531

Author(s):

Cemal Karakas ◽

Emin Fidan ◽

Kapil Arya ◽

Troy Webber ◽

Joan B. Cracco

Keyword(s):

Good Prognosis ◽

Cortical Atrophy ◽

Seizure Freedom ◽

Single Center ◽

Seizure Onset ◽

Shunt Procedure ◽

History Of ◽

The Mean

To determine the frequency, predictors, and outcomes of seizures in patients with myelomeningocele, we retrospectively analyzed the data from patients with myelomeningocele followed longitudinally at a single center from 1975 to 2013. We identified a total of 122 patients (61% female). The mean follow-up duration was 11.1 years (minimum-maximum = 0-34.5 years, SD = 8.8, median = 9.1 years). A total of 108 (88.5%) patients had hydrocephalus, and 98 (90.7%) of those patients required a ventriculoperitoneal shunt procedure. Twenty-four (19.7%) patients manifested with seizures, 23 of whom had hydrocephalus. The average age of seizure onset was 4.8 years (median 2 years of age). Falx dysgenesis ( P = .004), lumbar myelomeningocele ( P = .007), and cortical atrophy ( P = .028) were significantly associated with epileptic seizure development. The average seizure-free period at the last follow-up in patients with a history of myelomeningocele and seizures was 8.1 years. We conclude that myelomeningocele patients with seizures have an overall good prognosis with considerable long-term seizure freedom.

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Childhood Pilomatrixoma: Case Series from a Single Center

Trends in Pediatrics ◽

10.5222/tp.2020.43534 ◽

2020 ◽

Author(s):

Begümhan Demir Gündoğan ◽

Fatih Sağcan ◽

Mehmet Alakaya ◽

Ferah Tuncel Daloğlu ◽

Elvan Çağlar Çıtak

Keyword(s):

Differential Diagnosis ◽

Medical Records ◽

Clinical Presentation ◽

Case Series ◽

Neck Region ◽

Head And Neck Region ◽

Common Causes ◽

Institutional Experience ◽

History Of ◽

Associated Conditions

INTRODUCTION: The aim of this study is to describe our institutional experience with pilomatrixoma in children, specifically examining its clinical presentation, associated conditions, radiological and pathological findings and attract attention to differential diagnosis for this tumor. METHODS: The medical records of 52 patients were reviewed retrospectively. RESULTS: There were a total of 62 tumors in 52 children. The median age at excision was 9.5 years old. Tumors were predominantly located in head and neck region (48.4%). One patient had a family history of pilomatrixoma. One patient had Turner Syndrome and one had Tuberous Sclerosis complex. Fifty-four lesions were examined by ultrasonography (USG). Pilomatrixoma was considered in the differential diagnosis in eight patients (15.3%) by a radiologist. DISCUSSION AND CONCLUSION: Pilomatrixoma is one of the most common causes of superficial masses in children. It should be kept in mind for differential diagnosis in children with superficial masses.

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MO291RITUXIMAB IS EFFECTIVE AND SAFE IN ADULTS WITH STEROID-DEPENDENT NEPHROTIC SYNDROME: A LONG-TERM, SINGLE-CENTER EXPERIENCE

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab104.0049 ◽

2021 ◽

Vol 36 (Supplement_1) ◽

Author(s):

Gemma Patella ◽

Alessandro Comi ◽

Giuseppe Coppolino ◽

Nicolino Comi ◽

Giorgio Fuiano ◽

...

Keyword(s):

Nephrotic Syndrome ◽

Case Series ◽

Adult Patients ◽

Single Center ◽

Single Center Experience ◽

Steroid Dependent ◽

The Mean ◽

Steroid Dependent Nephrotic Syndrome

Abstract Background and Aims Steroid-dependent nephrotic syndrome (SDNS) may require a prolonged multi-drug therapy with risk of drug toxicity and renal failure. Rituximab (RTX) treatment has been found to be helpful in reducing the steroid dosage and the need for immunosuppressants (ISs), but little data are currently available regarding very long-term outcomes in adults. We herein describe a long-term, single-center experience of RTX use in a large series of adults with SDNS. Method We studied 23 adult patients with SDNS (mean age 54.2±17.1 y; 65% male; BMI 28.5±4.7), mostly consequent to membranous (47.8%) or focal glomerulonephritis (30.2 %) who were eligible to start a RTX regimen. Before entering the RTX protocol, proteinuria and eGFR were 7.06±3.87 g/24h and 65.9±28.2 ml/min/1.73 m2, respectively; albumin and CD19/CD20 ratio were 2.9±0.9 g/L and 0.99±0.01 respectively; the mean number of ISs was 2.39±0.89 and the mean annual rate of relapses was 2.2±0.9. Results Patients were followed over a mean follow-up of 64 months (range: 12-144). After RTX (mean dose: 1202.1±372.4 mg) the rate of relapses was virtually nullified (p<0.001). eGFR remained roughly stable (62.1±19.8 ml/min/1.73 m2, p=NS), while proteinuria, albumin, CD19/CD20 and BMI all significantly improved (p ranging from 0.01 to 0.001). The mean number of additional ISs was also reduced (0.44±0.12; p<0.001) and RTX enabled discontinuation of steroids in 13/23 (56.5%) patients. No major adverse events related to therapy were recorded. Conclusion Findings from this large case-series with a remarkable very long follow-up reinforce the role of RTX as an efficient and safe weapon to improve outcomes in adult patients suffering from SDNS.

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THE CHANGES OF RENAL FUNCTION STATUS BASED ON PROTEINURIA AND GLOMERULUS FILTRATION RATE IN PATIENTS WITH HISTORY OF PREECLAMPSIA WITH SEVERE FEATURES

10.36106/gjra/2617904 ◽

2021 ◽

pp. 279-282

Author(s):

Chairul Adilla Ardy ◽

Muara Panusunan Lubis ◽

Cut Adeya Adella ◽

Hotma Partogi Pasaribu ◽

Muhammad Rusda ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Renal Function ◽

Kidney Disease ◽

Serum Creatinine ◽

Late Onset ◽

Case Series ◽

Sampling Technique ◽

Time Interval ◽

History Of ◽

The Mean

Background: Preeclampsia with severe features is an endothelial disease that causes renal system disorders during pregnancy. Preeclampsia is an important cause of acute kidney injury and risk for chronic kidney disease. Methods: This study was a case series conducted at the Department of Obstetrics and Gynecology, H. Adam Malik General Hospital Medan, Indonesia starting from December 2019 until January 2020. Total sampling technique was employed obtaining 31 subjects with a history of preeclampsia with severe features for at least 3 months to 2 years postpartum, without a history of chronic disease, diabetes mellitus, and congenital kidney disorders. Proteinuria, serum creatinine, and GFR calculations were performed. Results: There were 31 patients who met the inclusion and exclusion criteria. At a time interval of 4 - ≤13 months postpartum, 2 levels of proteinuria +1 (0-2), serum creatinine 0.81 ± 0.21 mg/dl, and levels of GFR 109.57 ± 25.13 (ml/min/1.73 m ). Whereas at the time interval of >13 - 24 months postpartum, levels of proteinuria +1 (0-3), serum creatinine 0.85 ± 0.23 mg/dl, and GFR 2 levels of 104. 41 ± 28.45 (ml/min/1.73 m ). The mean of serum creatinine before delivery was 0.69 ± 0.15 mg/dl and after delivery was 0.83 ± 0.22 mg/dl. The mean of GFR postpartum at group of history of early onset preeclampsia was 103.07 ± 25.23 2 2 (ml/min/1.73 m ) and group of history of late onset preeclampsia was 113.40 ± 28.24 (ml/min/1.73 m ). Conclusion: There was a tendency for a decrease in renal function among women with a history of preeclampsia with severe features with ndings of persistent proteinuria from more than 3 to 24 months postpartum, an increase in mean of serum creatinine levels from before and after delivery and a decrease in GFR, but it was not signicant. This was related to the slow course of chronic kidney disease, so it had to be followed up periodically.

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Epidemiological and clinical characteristics of 671 COVID-19 patients in Henan Province, China

International Journal of Epidemiology ◽

10.1093/ije/dyaa081 ◽

2020 ◽

Vol 49 (4) ◽

pp. 1085-1095

Author(s):

Yifei Nie ◽

Jitian Li ◽

Xueyong Huang ◽

Wanshen Guo ◽

Xiaobai Zhang ◽

...

Keyword(s):

Clinical Laboratory ◽

Case Series ◽

Henan Province ◽

X Rays ◽

Illness Onset ◽

Medical Disorders ◽

History Of ◽

The Mean ◽

Wet Market ◽

Mean Time

Abstract Background Despite many reports on the characteristics of coronavirus disease 2019 (COVID-19) in Wuhan, China, relatively little is known about the transmission features of COVID-19 outside Wuhan, especially at the provincial level. Methods We collected epidemiological, demographic, clinical, laboratory, radiological and occupation information, along with contact history, of 671 patients with laboratory-confirmed COVID-19 reported from January 23 to February 5, 2020, in Henan province, China. We described characteristics of these cases, compared the diagnostic accuracy and features of blood testing, computed tomography (CT) scans and X-rays, and analysed SARS-CoV-2 transmission sources and patients’ occupations in Henan province. Results The mean age of patients in this case series was 43 years, 56.2% were male and 22.4% had coexisting medical disorders. The death rate was 0.3%. Fourteen patients did not show any symptoms. Lymphocyte percentage was associated with disease severity (χ2 = 6.71, P = 0.035) but had a large variation in each sample group. The mean time from illness onset to diagnosis was 5.6 days. A total of 330 patients had ever lived in or visited Wuhan, 150 had contact with confirmed cases, 323 had been to a hospital and 119 had been to a wet market. There were 33 patients who did not have a traceable transmission source, with 21.2% of these being farmers and 15.2% being workmen. Conclusions Lymphocyte percentage was a sign of severe COVID-19 in general but was not a good diagnostic index. Longer time from illness onset to diagnosis was associated with higher COVID-19 severity, older age, higher likelihood of having coexisting cardiovascular diseases including hypertension, and being male. Farming was found to be a high-risk occupation in Henan province, China.

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TO COMPARE ESTIMATION OF GESTATIONAL AGE BY FOETAL TRANSCEREBELLAR DIAMETER WITH BIPARIETAL DIAMETER`, FEMUR LENGTH, ABDOMINAL CIRCUMFERENCE, HEAD CIRCUMFERENCE AT DEPARTMENT OF OBSTETRICS AND GYNAECOLOGY AT SMS MEDICAL COLLEGE, JAIPUR

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v4i6.1255 ◽

2020 ◽

Vol 4 (6) ◽

Author(s):

Samta Solanki ◽

Anusha S ◽

B S Meena

Keyword(s):

Gestational Age ◽

Cross Sectional Study ◽

Abdominal Circumference ◽

Third Trimester ◽

Cross Sectional ◽

Femur Length ◽

Medical College ◽

Obstetrics And Gynaecology ◽

Biparietal Diameter ◽

The Mean

Background: Ultrasonographic assessment of gestational age by using different foetal parameter such as BPD, FL, AC are highly reliable in first and second trimester in pregnancy. In third trimester reliability of any single parameter has limitations. Methods: This was a hospital based comparative cross-sectional study done in the Department of Obstetrics and Gynaecology, S.M.S. Medical College and attached hospitals, Jaipur, Rajasthan. The period of study was from June 2018 to October 2019. Results: The mean TCD at 15 weeks and 40 weeks was 15.00 ± 0.00mm and 53.33±1.155mm respectively. The mean BPD at 16 weeks and 40 weeks was 33.50±0.70mm and 93±1.528mm respectively. The mean HC at 15 weeks and 40 weeks was 111.00±1,41mm and 340±2.00mm respectively. The mean FL at 15 weeks and 40 weeks was 18.50±0.70mm and 77.67±1.528mm respectively. The mean AC at 15 weeks and 40 weeks was 99.00±1.41mm and 365.33±8.32mm respectively. Conclusion: We conclude that foetal transcerebellar diameter can thus be used as an alternative foetal parameter to assess gestational age and can be used in cases of wrong dates or when other routine parameters are not conclusive or did not accurately predict gestational age for e.g. in cases of hydrocephalus, brachycephaly, dolicocephaly, intrauterine growth restriction, achondroplasia or short limb dwarfism. Keywords: Gestational age, Linear regression, BPD

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COVID-19 Vaccination in Patients with Myasthenia Gravis: A Single-Center Case Series

Vaccines ◽

10.3390/vaccines9101112 ◽

2021 ◽

Vol 9 (10) ◽

pp. 1112

Author(s):

Zhe Ruan ◽

Yonglan Tang ◽

Chunhong Li ◽

Chao Sun ◽

Ying Zhu ◽

...

Keyword(s):

Myasthenia Gravis ◽

Acetylcholine Receptors ◽

Subunit Vaccine ◽

Clinical Characteristics ◽

Case Series ◽

Onset Age ◽

Single Center ◽

Inactivated Vaccines ◽

Main Observation ◽

The Mean

In this study, we report the safety of coronavirus disease 2019 (COVID-19) vaccine in patients with myasthenia gravis (MG). Patients who were vaccinated against COVID-19 were included. Demographics, clinical characteristics, medications, and vaccination information were collected. The main observation outcome is the worsening of MG symptoms within 4 weeks following COVID-19 vaccination. A total of 22 patients with MG vaccinated for COVID-19 were included. Ten (45.5%) patients had ocular MG (OMG), and 12 (55.5%) patients had generalized MG (GMG). Six (27.3%) patients were female, and the mean (SD) onset age was 45.4 (11.8) years. Nineteen (86.4%) patients were seropositive for acetylcholine receptors (AChR) antibody. Seven (31.8%) patients underwent thymectomy, and four of them confirmed thymoma pathologically. Twenty-one patients were administrated with inactivated vaccines, and the remaining one was administrated with recombinant subunit vaccine. Twenty (90.9%) patients did not present MG symptom worsening within 4 weeks of COVID-19 vaccination, and two (9.1%) patients reported slight symptom worsening but resolved quickly within a few days. Our findings suggest inactivated COVID-19 vaccines might be safe in MG patients with Myasthenia Gravis Foundation of America (MGFA) classification I to II, supporting the recommendation to promote vaccination for MG patients during the still expanding COVID-19 pandemic.

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Periprosthetic Infections of the Shoulder Joint: Characteristics and 5-Year Outcome of a Single-Center Series of 19 Cases

Antibiotics ◽

10.3390/antibiotics10091125 ◽

2021 ◽

Vol 10 (9) ◽

pp. 1125

Author(s):

Mohamad Bdeir ◽

Franz-Joseph Dally ◽

Elio Assaf ◽

Sascha Gravius ◽

Elisabeth Mohs ◽

...

Keyword(s):

Treatment Failure ◽

Total Shoulder Arthroplasty ◽

Joint Infection ◽

Total Duration ◽

Case Series ◽

Single Center ◽

Reactive Protein ◽

Joint Characteristics ◽

Treatment Failure Rate ◽

The Mean

Periprosthetic shoulder infection (PSI) remains a devastating complication after total shoulder arthroplasty (TSA). Furthermore, there is a paucity in the literature regarding its diagnostic and therapeutic management, especially the absence of therapy concepts devised exclusively for PSI. The aim of the presenting study is to examine the characteristics and outcome of patients with PSI who were treated according to well-established algorithms developed originally for periprosthetic joint infection (PJI) of the hip and knee and determine if these algorithms can be applied to PSI. This single-center case series included all patients with a PSI presenting between 2010 and 2020. Recorded parameters included age, sex, affected side, BMI, ASA score, Charlson comorbidity index, preoperative anticoagulation, indication for TSA (fracture, osteoarthritis or cuff-arthropathy), and type of infection (acute or chronic PSI). The outcome was divided into treatment failure or infect resolution. Staphylococcus epidermidis and aureus were the commonest infecting pathogens. Acute PSI was mainly treated with debridement, irrigation, and retention of the prosthesis (DAIR) and chronic cases with two/multiple-stage exchange. The treatment failure rate was 10.5%. C-reactive protein was preoperatively elevated in 68.4% of cases. The mean number of operative revisions was 3.6 ± 2.6, and the mean total duration of antibiotic treatment was 72.4 ± 41.4 days. The most administered antibiotic was a combination of clindamycin and fluoroquinolone. In summary, the data of the current study suggest that therapeutical algorithms and recommendations developed for the treatment of PJI of the hip and knee are also applicable to PSI.

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