Neuropsychological development in a child with early-treated congenital hypothyroidism as compared with her unaffected identical twin

1997 ◽  
Vol 136 (1) ◽  
pp. 100-104 ◽  
Author(s):  
Stefania Bargagna ◽  
Luca Chiovato ◽  
Daniela Dinetti ◽  
Lucia Montanelli ◽  
Cristina Giachetti ◽  
...  
Keyword(s):  
Body Weight ◽  
Language Development ◽  
Motor Skills ◽  
Congenital Hypothyroidism ◽  
Verbal Memory ◽  
Rare Case ◽  
Neuropsychological Evaluation ◽  
Neuropsychological Development ◽  
Iq Scores

Abstract Objective: Neonatal screening for congenital hypothyroidism (CH) prevents the serious neuropsychological features of CH, but the question remains whether intelligence and motor skills of CH children treated early are completely normal. Design: In this report we describe the rare case of two genetically identical twins, only one of whom was affected by CH due to thyroid agenesis. L-Thyroxine (9 μg/kg body weight/day) therapy was initiated at 27 days of age and was adequate throughout the follow-up. Methods: Neuropsychological evaluation was performed on the twins in parallel from 3 months to 8 years of age. Results: The CH twin (NB) did not show major neuromotor impairments but, compared with the unaffected twin (EB), she had a slight delay in postural/motor achievements and in language development that completely disappeared at 8 years of age. On standardised tests of intelligence, NB was indistinguishable from control children but, compared with her twin, she had lower IQ scores in most testing occasions up to 7 years of age (NB = 108 vs EB = 115). School achievements of NB did not significantly differ from those of her classmates but, compared with her twin, she scored worse in writing, mechanical reading, verbal memory, and possibly in arithmetic. Conclusions: Because the twins were genetically and phenotypically identical, were raised in the same environment, and received a similar education, it is concluded that hypothyroidism in utero and in the first neonatal month was responsible for the lower neuropsychological achievements of the CH twin. While foetal hypothyroidism is at present unavoidable, earlier diagnosis and initiation of treatment in neonates with CH are important and highly recommended. European Journal of Endocrinology 136 100–104

scholarly journals Concussion Incidence and Recovery Among Youth Athletes With ADHD Taking Stimulant-Based Therapy

2021 ◽  
Vol 9 (10) ◽  
pp. 232596712110325
Author(s):  
Muhammad Ali ◽  
Nickolas Dreher ◽  
Theodore Hannah ◽  
Adam Li ◽  
Nek Asghar ◽  
...  
Keyword(s):  
Motor Skills ◽  
Verbal Memory ◽  
Visual Memory ◽  
Adhd Group ◽  
Neurocognitive Dysfunction ◽  
Stimulant Use ◽  
Youth Athletes ◽  
Visual Motor ◽  
The Impact

Background: Attention deficit hyperactivity disorder (ADHD) may affect concussion risk and recovery in youth athletes. Purpose: To evaluate the association between incidence of concussion and postinjury recovery of symptoms and neurocognitive dysfunction among youth athletes with ADHD and differential stimulant use. Study Design: Cohort study; Level of evidence, 3. Methods: From 2009 to 2019, the authors administered the Immediate Post-concussion Assessment and Cognitive Testing (ImPACT) to youth athletes at the beginning of each season. Throughout the season, athletes with concussions were examined and readministered the ImPACT both postinjury and again 7 days after the postinjury administration. These athletes (N = 7453) were divided into those with ADHD on stimulant-based therapy (ADHD+meds; n = 167), those with ADHD not on stimulant-based therapy (ADHD-only; n = 354), and those with no ADHD (non-ADHD; n = 6932). Recovery of neurocognitive dysfunction at postinjury and follow-up was calculated using the ImPACT symptom score, verbal memory, visual memory, visual motor skills, and reaction time (calculated as standardized deviations from baseline). Univariate results were confirmed with multivariate analysis. Results: The ADHD+meds cohort had a lower incidence of concussion (37.3 concussions per 100 patient-years) compared with the ADHD-only group (57.0 concussions per 100 patient-years) (odds ratio [OR], 0.51 [95% CI, 0.37-0.71]; P < .0001) and non-ADHD group (52.8 concussions per 100 patient-years) (OR, 0.50 [95% CI, 0.37-0.67]; P < .0001). At postinjury, ImPACT scores were elevated from baseline to a similar extent in the ADHD+meds cohort compared with the other 2 groups. By follow-up, however, deviations from baseline were lower among the ADHD+meds group compared with the non-ADHD group in verbal memory (OR, 0.46 [95% CI, 0.28-0.76]; P = .002), visual memory (OR, 0.27 [95% CI, 0.10-0.66]; P = .005), and visual motor skills (OR, 0.58 [95% CI, 0.33-0.99]; P = .048). The deviation at follow-up was also lower among the ADHD+meds group compared with the ADHD-only group in visual memory (OR, 0.56 [95% CI, 0.33-0.96]; P = .04) and visual motor skills (OR, 0.42 [95% CI, 0.22-0.81]; P = .01). Conclusion: Stimulant use among youth athletes with ADHD was independently associated with reduced incidence for concussion and lower deviation from baseline in verbal memory, visual memory, and visual motor skills at 7 days postconcussion, suggesting lower neurocognitive impairment at follow-up in this group versus their peers.

Relationship of cognitive function, quality of life (QOL), and neuroimaging in primary CNS lymphoma (PCNSL) survivors.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 2040-2040 ◽  
Author(s):  
Nancy Diane Doolittle ◽  
Agnieszka Korfel ◽  
Meredith A. Lubow ◽  
Elisabeth Schorb ◽  
Uwe S. Schlegel ◽  
...  
Keyword(s):  
Executive Function ◽  
Motor Skills ◽  
Verbal Memory ◽  
Brain Mri ◽  
Primary Cns Lymphoma ◽  
Cns Lymphoma ◽  
Linear Measurements ◽  
Delayed Treatment ◽  
The Mean

2040 Background: Delayed treatment-related neurotoxicity in PCNSL is a significant problem since improved treatments have increased survival. The study purpose is to describe and correlate neuropsychologic (NP), QOL and neuroimaging outcomes as neurotoxicity indicators. Methods: Four centers in Germany and U.S. prospectively evaluated PCNSL patients (pts) in complete remission (CR) for 2 yrs or more, treated as shown in the Table. NP tests evaluated attention/executive function, verbal memory, motor skills, and QOL (Correa, Ann Oncol 2007). Brain MRI was obtained; the size of T2 abnormalities was determined using two perpendicular linear measurements where hyperintensities were largest and the sum of the measurements was calculated. Differences in total T2 among treatments were compared using analysis of variance; correlations between total T2 and NP or QOL results were assessed using Pearson’s correlation coefficient (r). Results: From Feb 2009 to Feb 2011, 80 pts were evaluated (43 male; median age, 59; median KPS, 80). Median follow-up from diagnosis to evaluation was 5.5 yrs. Total T2 abnormalities were significantly different among treatments (p = 0.0006). The mean area of total T2 in pts treated with WBRT was significantly higher and more than twice the mean of any of the other 3 treatments. Total T2 abnormalities were negatively associated with NP results ie. attention/executive function, r = -0.38 (p = 0.0006), verbal memory, r = -0.23 (p = 0.042), motor skills, r = -0.28 (p = 0.016), composite score, r = -0.34 (p = 0.002); and functional/global QOL (higher total T2 associated with lower QOL). Conclusions: This large PCNSL series in long-term (LT) CR reveals higher total T2 abnormalities in pts treated with WBRT, which are associated with poorer cognitive performance and lower QOL at LT follow-up. Enhanced chemotherapy results in exciting LT survival and function. [Table: see text]

Lameness in weaned pigs associated with tetracycline overdose

2013 ◽  
Vol 41 (01) ◽  
pp. 61-66
Author(s):  
P. Wolf ◽  
J. Kamphues ◽  
E. Grosse Beilage ◽  
V. Gotter
Keyword(s):  
Body Weight ◽  
Site Investigation ◽  
Weaned Pigs

SummaryOn a piglet producing farm severe lameness was observed in pigs which had been weaned 3 weeks and longer due to severe distortions of joints and claws of fore and/or hind legs. Splaying of claws as well as flexural limb deformations particularly in the carpal joints increased in degree the older and heavier the pigs were. Because of coughing in the weaners, which had started 7–8 weeks before any lameness or limb deformation had been apparent, tetracycline was applied via water as medication. During the course of an on-site investigation, a miscalculation of dosage – 129–168 mg tetracycline per kg body weight – was revealed. It was therefore suggested to the farmer and his veterinarian to immediately stop the application of tetracycline and to use a different antibiotic against the still present coughing and sneezing. During a follow-up evaluation 4 weeks later, the farmer reported a significant decrease in affected animals. While a direct correlation between the lameness in the weaned pigs and the tetracycline dosage could not be proven, the existing evidence supports the theory that the overdosage was at least a contributing factor.

Traumatic avulsion management by allotransplantation. A rare case report with two years of successful follow-up

2015 ◽  
Vol 2 ◽  
pp. 1-4
Author(s):  
Nandini R. Katta ◽  
P. Poornima ◽  
A. Shruthi ◽  
N. B. Nagaveni
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Rare Case Report

Effectiveness of Dulaglutide in the Real World and in Special Populations of Type 2 Diabetic Patients

2020 ◽  
Vol 105 (7) ◽  
pp. e2617-e2625 ◽  
Author(s):  
Mario Luca Morieri ◽  
Vera Frison ◽  
Mauro Rigato ◽  
Michele D’Ambrosio ◽  
Federica Tadiotto ◽  
...  
Keyword(s):  
Body Weight ◽  
Real World ◽  
Disease Duration ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Body Weight Reduction ◽  
Background Population ◽  
Glucagon Like Peptide 1

Abstract Context In randomized controlled trials (RCTs) on type 2 diabetes (T2D) patients, the glucagon-like peptide-1 (GLP-1) receptor agonist (GLP-RA) dulaglutide reduced HbA1c and body weight, but generalizability of such findings to real-world T2D patients is challenging. Objective We evaluated effectiveness of dulaglutide in routine clinical practice, especially in subgroups of patient that are underrepresented in RCTs. Design Retrospective multicenter study. Setting Diabetes outpatient clinics. Patients and intervention All consecutive patients who initiated dulaglutide between 2015 and 2018. Main outcome measures Changes in HbA1c and body weight were assessed up to 30 months after baseline. Effectiveness was analyzed in patient subgroups according to: prior use of GLP-1RA, persistence on treatment and dose, age, sex, disease duration, renal function, obesity, cardiovascular disease, or concomitant use of insulin or sulphonylurea. Results From a background population of 83,116 patients, 2084 initiated dulaglutide (15.3% switching from another GLP-1RA), 1307 of whom had at least 1 follow-up visit. Overall, dulaglutide reduced HbA1c by 1.0% and body weight by 2.9 kg at the end of observation. These effects were more pronounced in GLP-1RA-naïve patients and in those with shorter disease duration. Improvement in HbA1c was highly significant and consistent across all subgroups, including those aged ≥ 75 years, nonobese, or with chronic kidney disease. Body weight declined in all subgroups and significantly more with the 1.5-mg versus 0.75-mg dose. Conclusions In real-world T2D patients, effectiveness of dulaglutide on HbA1c and body weight reduction was highly consistent and significant even in subgroups of patients poorly represented in RCTs.

scholarly journals A life-threatening spontaneous ascending aortic rupture due to a small penetrating aortic ulcer

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110377
Author(s):  
Yasuhito Nakamura ◽  
Kiyoshi Doi ◽  
Syojiro Yamaguchi ◽  
Etsuji Umeda ◽  
Osamu Sakai ◽  
...  
Keyword(s):  
Rare Case ◽  
Aortic Wall ◽  
Aortic Rupture ◽  
Ascending Aorta ◽  
Bleeding Site ◽  
Penetrating Aortic Ulcer ◽  
Postoperative Course ◽  
Life Threatening ◽  
Aortic Dissections

We reported a rare case of spontaneous frank rupture of a small (4 mm) penetrating aortic ulcer in the ascending aorta resulted in catastrophic bleeding. The ulcer only created a pinhole wound in the adventitia without saccular aneurysms, intramural hematomas, or aortic dissections. Notably, the wound could be directly closed because the aortic wall was intact only 5 mm away from the bleeding site. The postoperative course was uneventful, and the patient was discharged on the 11th postoperative day. After 8 months, follow-up computed tomography showed no abnormality of the aortic wall at the repair site.

A rare case of hypokalaemia and hypophosphataemia secondary to geophagia

2021 ◽  
Vol 14 (5) ◽  
pp. e239322
Author(s):  
Charmaine Schmidt ◽  
Jonathan Oxley Oxland ◽  
Robert Freercks
Keyword(s):  
Creatine Kinase ◽  
Iron Deficiency ◽  
Phosphate Binder ◽  
Rare Case ◽  
Potassium Level ◽  
Serum Potassium Level ◽  
Electrolyte Abnormality ◽  
Distal Muscle

We report a case of severe hypokalaemia and moderate hypophosphataemia from clay ingestion. A 60-year-old woman presented with flaccid paralysis. Investigations revealed a serum potassium level of 1.8 mmol/L, phosphate level of 0.56 mmol/L and creatine kinase level of 30 747 IU/L. She had marked proximal and distal muscle weakness due to severe hypokalaemia and concurrent hypophosphataemia, which likely contributed to the onset of rhabdomyolysis. The patient subsequently admitted to significant pica, most likely secondary to an associated iron deficiency. We conclude that the ingested clay acted as a potassium and phosphate binder. Although we did not investigate the content of the clay in this case, it has been reported that clay can bind potassium in vitro and is rich in minerals such as aluminium that could play a role in the binding of phosphate, although the exact mechanism remains unclear. The patient recovered fully and outpatient follow-up at 6 months and again at 40 months confirmed no electrolyte abnormality, myopathy nor any further geophagia.

Penile Lymphoepithelioma-Like Carcinoma: A Rare Case With PD-L1 Expression

2021 ◽  
pp. 106689692098834
Author(s):  
Raquel Machado-Neves ◽  
Bernardo Teixeira ◽  
Elsa Fonseca ◽  
Pedro Valente ◽  
Joaquim Lindoro ◽  
...  
Keyword(s):  
Human Papillomavirus ◽  
Tumor Cells ◽  
Rare Case ◽  
Malignant Tumors ◽  
Squamous Cell Carcinomas ◽  
The Third ◽  
The Past ◽  
First Case ◽  
Lymphoplasmacytic Infiltrate

Most malignant tumors of the penis are squamous cell carcinomas (SCC), being divided in 2 groups, one human papillomavirus (HPV)-related and another non-HPV-related, with lymphoepithelioma-like carcinoma (LELC) being one of the rarest HPV-related SCC. In this article, we report a case of a 50-year-old man who presented testicular swelling and pain for the past 3 months. A penile mass was identified, and the patient was submitted to a total penectomy. The penectomy specimen showed an ulcerated lesion at the glans reaching the cavernous bodies. Microscopic examination showed undifferentiated epithelial cells with syncytial growth pattern mix with a dense lymphoplasmacytic infiltrate, consistent with LELC. The tumor cells expressed p16 and all 3 different clones of PDL1 (22C3, SP263, and SP142). The patient is alive and well with a follow-up of 3 months. To our knowledge, this is the third LELC of the penis reported in literature and the first case reported with PDL1 expression.

scholarly journals A case report of inappropriate inhibition of ventricular pacing due to a unique pacemaker electrogram storage feature

2021 ◽  
Vol 5 (3) ◽  
Author(s):  
Habib R Khan ◽  
William K Chan ◽  
Juliana Kanawati ◽  
Raymond Yee
Keyword(s):  
Rare Case ◽  
Storage Capacitor ◽  
Ventricular Pacing ◽  
Dual Chamber ◽  
Holter Monitor ◽  
Case Summary ◽  
Ventricular Lead ◽  
Internal Function ◽  
Third Degree Atrioventricular Block

Abstract Background Modern permanent pacemakers (PPMs) have individual features designed to identify cardiac rhythm abnormalities and improve their performance. Inappropriate pacing inhibition may be an undesired outcome from these features and cause symptoms in patients who require frequent pacing, leading to dizziness, and syncope. Inappropriate inhibition can be difficult to identify in circumstances that are intermittent and difficult to reproduce. Case summary A 57-year-old female underwent a mitral valve replacement (MVR) for severe mitral stenosis. One month following MVR, she presented with symptomatic third-degree atrioventricular block, and a dual-chamber PPM (Advisa™, Medtronic, Minneapolis, USA) was implanted and programmed DDD 50–130 b.p.m. At the 3-month follow-up, she reported frequent episodes of lightheadedness. She was found to have intermittent ventricular pacing inhibition on a 48-h Holter monitor due to an internal function of the Advisa™ series of PPMs that attempts to store an electrogram (EGM) every 1 h and 30 s. During the EGM storage, an amplified signal from the storage capacitor can result in oversensing by the ventricular channel and inappropriate pacing inhibition. Discussion To rectify the issue, the ventricular lead sensitivity value was increased from 0.9 mV to 1.2 mV. No instances of inappropriate ventricular pacing inhibition were noted on follow-up. To our knowledge, this is a rare case of inappropriate ventricular pacing inhibition caused by a combination of PPM self-adjusting sensitivity algorithm and oversensing every 1 h and 30 s from an amplified storage capacitor. Physicians should be aware of this possible complication and differentiate it from device or lead malfunction.

scholarly journals Closed loop obstruction and adhesive intestinal obstruction in perineal hernia

2020 ◽  
Vol 13 (12) ◽  
pp. e238112
Author(s):  
Ramprasad Rajebhosale ◽  
Mohammad Miah ◽  
Fraser Currie ◽  
Pradeep Thomas
Keyword(s):  
Small Bowel ◽  
Intestinal Obstruction ◽  
Rare Case ◽  
Transition Point ◽  
Closed Loop ◽  
Abdominoperineal Excision ◽  
Perineal Hernia ◽  
Bowel Gangrene ◽  
Adhesive Intestinal Obstruction

Perineal hernia with bowel gangrene is uncommon but known complication of laparoscopic extralevator abdominoperineal excision (ELAPE). We present a rare case of closed loop small bowel obstruction with bowel gangrene secondary to an incarcerated perineal hernia that developed 7 years after an ELAPE. Intraoperatively, we found a definitive transition point due to adhesions in pelvis and a closed loop obstruction of the distal small bowel at different site with gangrenous intestine. She was managed successfully surgically with adhesiolysis and fixation of defect with biological mesh. Prevalence of perineal hernias will rise in future because of the increasing cases of ELAPE, in which no repair of pelvic floor is performed. The need of follow-up of these operations and more reporting of such cases are important in increasing awareness of these complications. Patients should be made aware of such complications and should seek urgent medical care.

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