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Journal of Autism and Developmental... May 2024Investigate the association between gastrointestinal (GI) issues and psychometric scores among children with developmental delays and typical development. We examined...
The Association Between Gastrointestinal Issues and Psychometric Scores in Children with Autism Spectrum Disorder, Developmental Delays, Down Syndrome, and Typical Development.
Investigate the association between gastrointestinal (GI) issues and psychometric scores among children with developmental delays and typical development. We examined the association between GI issues and the Mullen Scale of Early Learning (MSEL), Vineland Adaptive Behavior Subscales (VABS), and Aberrant Behavior Checklist (ABC) scores from participants with autism spectrum disorder (ASD), Down syndrome (DS), other developmental delays (DD) and typical development (TD) from the CHildhood Autism Risk from Genetics and Environment (CHARGE) Study (n = 1603). Approximately 32% of children with ASD, 31% of children with DD, and 20% of children with DS reported at least one GI issue, compared to 7% of TD controls. Constipation was the most frequently reported symptom for the entire population, including controls. In general, GI issues correlated with poorer behavioral scores (decreased communication, daily living, socialization, and motor skills on the VABS, and increased irritability/agitation, lethargy/social withdrawal, stereotypic behavior, and hyperactivity/noncompliance on the ABC) among ASD cases. Analysis by sex indicated that GI issues also correlated with poorer cognitive scores (fine motor, receptive language, expressive language, and MSEL composite scores), and adaptive behavior (communication skills, daily living skills, motor, and VABS composite scores) among boys with DD, but not girls with DD-suggesting sex differences among DD cases. Even TD controls showed increased stereotypic behavior and social withdrawal in association with GI issues. However, GI issues were not correlated with impairments in psychometric scores among DS cases. Given that GI issues correlate with deficits in behavioral and cognitive scores, future studies should investigate the treatment of GI symptoms in children with ASD and DD.
PubMed: 38739245
DOI: 10.1007/s10803-024-06387-2 -
Journal of Veterinary Internal Medicine May 2024To describe the diagnosis and successful treatment of systemic francisellosis in a dog. An 11-year-old female spayed Labrador retriever presented for progressive...
To describe the diagnosis and successful treatment of systemic francisellosis in a dog. An 11-year-old female spayed Labrador retriever presented for progressive lethargy, hyporexia, and cough. The dog was febrile with a neutrophilia, nonregenerative anemia, thrombocytopenia, and had increased activity in serum of liver-derived enzymes. Francisella philomiragia was isolated from aerobic blood culture. The dog was treated for 6 weeks with enrofloxacin orally. Repeated aerobic blood cultures after 2 and 6 weeks of antibiotic therapy were negative. The dog was clinically normal 7 months after diagnosis with no evidence of relapse.
PubMed: 38738486
DOI: 10.1111/jvim.17104 -
Journal of Family Medicine and Primary... Mar 2024Hypothyroidism and pericardial effusion are two conditions that are associated with previous research. Nevertheless, the correlation between the severity of...
The thyroid-pericardium connection: Unveiling the influence of hypothyroidism severity on pericardial effusion in South Gujarat's patient population-A cross-sectional study.
CONTEXT
Hypothyroidism and pericardial effusion are two conditions that are associated with previous research. Nevertheless, the correlation between the severity of hypothyroidism and the occurrence of pericardial effusion remains uncertain.
AIMS
1. To explore and examine the association between the severity of hypothyroidism and the occurrence of pericardial effusion. 2. To compare clinical characteristics and demographic factors with varying degrees of hypothyroidism severity and pericardial effusion.
SETTINGS AND DESIGN
Tertiary care hospital and cross-sectional study using a pretested, semistructured questionnaire and echocardiography.
METHOD AND MATERIAL
The cross-sectional study encompassed a cohort of 60 patients diagnosed with hypothyroidism.
STATISTICAL ANALYSIS USED
Epi-info version 7.0 and Open epi version 3.1, Chi-square, mean, and standard deviation were used.
RESULTS
There were 16 male participants, accounting for 26.7% of the total, and 44 female participants, constituting 73.3% of the cohort. The participants' average age was 35.5 years. Based on TSH levels, the severity of hypothyroidism in the study was classified into three categories: mild (33.4%), moderate (43.3%), and severe (23.3%). The most common symptoms were lethargy, weight gain, and cold intolerance. Also, an association between the severity of hypothyroidism and pericardial effusion was noted.
CONCLUSION
This research established a noteworthy correlation between hypothyroidism severity and pericardial effusion incidence that is statistically significant. Nevertheless, no significant associations were detected with demographic factors or pulse rate. These results underscore the significance of monitoring and addressing pericardial effusion in patients with moderate-to-severe hypothyroidism. Further investigations are warranted to extend these findings.
PubMed: 38736801
DOI: 10.4103/jfmpc.jfmpc_1236_23 -
Molecular Genetics and Metabolism... Jun 2024Isovaleric acidemia (IVA) is a rare autosomal recessive disorder that manifests as a deficiency of isovaleryl-CoA dehydrogenase (IVD), a key enzyme in leucine...
Isovaleric acidemia (IVA) is a rare autosomal recessive disorder that manifests as a deficiency of isovaleryl-CoA dehydrogenase (IVD), a key enzyme in leucine metabolism. The clinical presentations associated with IVD deficiency are variable and include feeding intolerance, vomiting, metabolic acidosis, ketonemia, "sweaty feet" odor, lethargy, coma and even death. Tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS) methods were used to perform organic acid analysis of blood and urine samples from IVA patients, and the genetic analysis included next generation sequencing (NGS) and Sanger sequencing of the gene. Here, we report the case of an almost seven-year-old male patient from a Chinese family who was asymptomatic during the newborn period, including the clinical manifestations and examination results. Genetic analysis revealed a previously unreported compound heterozygous variant in the gene: c.593G > C (p.W198S) and c.859C > T (p.R287W).
PubMed: 38736698
DOI: 10.1016/j.ymgmr.2024.101088 -
Journal of Veterinary Diagnostic... Jul 2024A 7-y-old, castrated male, leucistic sugar glider () was presented because of a progressive history of lethargy, ataxia, diarrhea, and anorexia. Abdominal ultrasound...
A 7-y-old, castrated male, leucistic sugar glider () was presented because of a progressive history of lethargy, ataxia, diarrhea, and anorexia. Abdominal ultrasound revealed fluid in the abdomen and an infiltrative mass in the liver. Due to a poor prognosis, euthanasia was performed. Postmortem examination revealed a focally extensive, infiltrative, off-white, firm mass in the liver with adhesion to the omentum, mesentery, gastric serosa, and diaphragm. The remaining hepatic parenchyma was diffusely yellow. Histologically, the hepatic mass was consistent with metastatic cholangiocarcinoma (cholangiocellular carcinoma) with proliferation of neoplastic epithelial cells surrounded by marked desmoplasia. Neoplastic cells expanded and infiltrated the adjacent omentum, mesentery, and the serosal surfaces of the stomach, kidney, and small and large intestines. To our knowledge, cholangiocarcinoma has not been reported previously in a sugar glider.
Topics: Cholangiocarcinoma; Male; Animals; Bile Duct Neoplasms; Marsupialia; Liver Neoplasms; Fatal Outcome
PubMed: 38721887
DOI: 10.1177/10406387241252815 -
The Journal of the Association of... Nov 2023Hemophagocytic lymphohistiocytosis (HLH) is an extremely uncommon hematologic condition that is potentially fatal. It is a disease of histiocyte or lymphocyte...
Hemophagocytic lymphohistiocytosis (HLH) is an extremely uncommon hematologic condition that is potentially fatal. It is a disease of histiocyte or lymphocyte hyperactivity, which can be inherited (primary) or acquired (secondary). Dengue fever and HLH both can present with fever, lethargy, and a blood profile of pancytopenia, which makes it difficult to diagnose HLH promptly in a region with dengue endemicity. Clinical and supportive biochemistry findings help clinicians to suspect and diagnose HLH. This article presents a case report of a patient who was diagnosed with dengue fever during initial presentation with subsequent swerves toward HLH. Diagnosing HLH associated with dengue can be difficult. However, it is of utmost importance to diagnose it early, as an early diagnosis and management can lead to significantly improved outcomes. : Gandhi A, Patel P, Shah D. Apparent Dengue Fever Turned Out to be Hemophagocytic Lymphohistiocytosis. J Assoc Physicians India 2023;71(11):96-99.
Topics: Lymphohistiocytosis, Hemophagocytic; Humans; Dengue; Male; Adult
PubMed: 38720506
DOI: 10.59556/japi.71.0387 -
New Zealand Veterinary Journal Jul 2024To describe the incidence, aetiology, treatment, and outcomes of farmer-reported clinical mastitis on New Zealand dairy sheep farms.
AIMS
To describe the incidence, aetiology, treatment, and outcomes of farmer-reported clinical mastitis on New Zealand dairy sheep farms.
METHODS
A prospective cohort study was conducted on 20 spring-lambing New Zealand sheep milking farms over the 2022-2023 season. Clinical mastitis was defined as a change in the appearance of milk and/or signs of inflammation in the gland. Farmers were required to report all cases of clinical mastitis and collect information on affected ewes' demographics, clinical features, treatments (where applicable), and outcomes. Milk samples from mastitic glands were submitted for microbiological culture and identification by matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF).
RESULTS
Partial or complete clinical mastitis data were available for 236 cases from 221 ewes on 18/20 study farms. Clinical mastitis was diagnosed in 0-6% of ewes at the farm level, with an overall incidence of 1.8 (95% CI = 1.0-3.2)% using the study data, or 2.3 (95% CI = 1.6-3.3)% using the study data and farmer estimates that included unreported cases. Cases occurred mostly in early lactation, with 59% detected during the lambing period (August-October), at a median of 7 (IQR 3, 40) days in milk. The majority of cases featured clots in the milk (59%), swelling (55%), and unevenness (71%) of the glands. Pyrexia (rectal temperature 40.0°C) was diagnosed in 25% of cases and depression (lethargy, inappetence, or inability to stand) in 26% of cases. Treatment was given to 46% of cases, with tylosin being the most commonly used treatment (50% of treated cases). The most common outcome was immediate drying off to be culled without treatment (32%), followed by still milking and recovered but with lasting problems (25%). Nearly half of all the milk samples submitted were culture negative. (14%), non-aureus staphylococci (12%), and (11%) were the most common isolates, found on 12, 8 and 8 of the 16 farms with microbiological data, respectively.
CONCLUSIONS
Clinical mastitis affected up to 6% of ewes at the farm level. Systemic signs were observed in one quarter of affected ewes, suggesting a role for supportive treatment. Clinical mastitis can be severe and challenging to fully resolve in New Zealand dairy sheep.
CLINICAL RELEVANCE
This is the first systematic study of clinical mastitis in New Zealand dairy ewes. It provides baseline information specific to New Zealand conditions for farmers, veterinarians, and other advisors to guide the management of mastitis for the relatively new dairy sheep industry in New Zealand.
Topics: Animals; Sheep; New Zealand; Female; Sheep Diseases; Mastitis; Prospective Studies; Dairying; Incidence; Milk; Farmers; Lactation
PubMed: 38719198
DOI: 10.1080/00480169.2024.2344566 -
European Heart Journal. Case Reports May 2024Coronary cameral fistula is a rare diagnosis, which may be picked up incidentally on cardiac imaging. While majority of cases is asymptomatic, they can be complicated by...
BACKGROUND
Coronary cameral fistula is a rare diagnosis, which may be picked up incidentally on cardiac imaging. While majority of cases is asymptomatic, they can be complicated by myocardial ischaemia, arrhythmias, heart failure, infective endocarditis, and rarely rupture or thrombosis of the fistula leading to sudden death.
CASE SUMMARY
A 73-year-old female presents with fever, lethargy, and examination finding of a continuous cardiac murmur. CT coronary angiogram confirmed the presence of a coronary cameral fistula, with an aneurysmal RCA seen arising from the right coronary sinus, following an extensive tortuous course wrapping around the heart, and terminating at the right atrium. While there was initial streptococcus bacteraemia identified on blood culture sampling, no obvious masses were detected on the valves, chambers, or along the course of the fistula. Over time, she develops anginal chest pain and heart failure symptoms, with progressive dilatation of the right ventricle and functional tricuspid regurgitation secondary to shunting of the fistula into the right chambers. Surgical intervention was then pursued and successfully addressed these complications.
DISCUSSION
This case report highlights the importance of advanced imaging modalities for accurate diagnosis of coronary cameral fistulae, addressing late manifestations of the disease and the necessity for a collaborative, multidisciplinary approach in managing complex cardiac anomalies.
PubMed: 38715625
DOI: 10.1093/ehjcr/ytae207 -
Frontiers in Pediatrics 2024In impoverished nations like Ethiopia, neonatal sepsis contributes significantly to neonatal mortality. Despite variations in the specific timing of death and predictors...
BACKGROUND
In impoverished nations like Ethiopia, neonatal sepsis contributes significantly to neonatal mortality. Despite variations in the specific timing of death and predictors of neonatal mortality associated with sepsis across different settings, there's limited documented information in the Neonatal Intensive Care Units of northeastern Ethiopia. Consequently, the aim of this study was to determine time to death and its predictors among neonates with sepsis admitted to Neonatal Intensive Care Units in comprehensive specialized hospitals in northeastern Ethiopia.
METHODS
A prospective cohort study conducted at the institution level involved 306 neonates diagnosed with sepsis. Data collection utilized face-to-face interviews and chart reviews. Subsequently, the data were inputted into Epi-data version 4.6 and later analyzed using STATA version 17. The median time to death was determined, and both the Kaplan-Meier curve and log-rank test were applied. Furthermore, a Cox proportional hazard regression model was utilized to identify predictors of neonatal mortality associated with sepsis.
RESULT
The cumulative incidence of mortality among neonates admitted with sepsis was 34% (95% CI: 28.9%-39.5%). The neonatal mortality rate stood at 51 (95% CI: 42.1, 62) per 1,000 neonates admitted to the intensive care units with sepsis over a total of 1,854 person-days of observation. Additionally, the median time to death was 13 days (IQR = 5-23 days). Tachypnea [AHR 6.2 (95% CI: 1.5-9.7)], respiratory distress syndrome [AHR 2.1 (95% CI: 1.3-3.5)], lethargy [AHR 1.8 (95% CI: 1.2-2.6)], preterm birth [AHR 1.8 (95% CI: 1.2-2.7)], continuous positive airway pressure use [AHR 2.1 (95% CI: 1.3-3.4)], home delivery [AHR 2.63 (95% CI: 1.1-6.4)], Subgalea hemorrhage [AHR 1.8 (95% CI: 1.1-3.9)], and low platelet count [AHR 5.9 (95% CI: 2.3-8.6)] were found to be predictors of time to death in neonates with sepsis.
CONCLUSION
The study revealed an alarmingly high neonatal mortality rate among septic neonates, underscoring the urgency for intervention. Enhancing the quality of care in neonatal intensive care units, bolstering infection prevention during procedures such as continuous positive airway pressure, exercising caution with locally made accessories, and reinforcing a culture of institutional delivery are critical in curbing neonatal sepsis-related mortalities.
PubMed: 38711492
DOI: 10.3389/fped.2024.1366363 -
The Egyptian Heart Journal : (EHJ) :... May 2024HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in...
BACKGROUND
HACEK endocarditis is usually insidious and can often be difficult to diagnose due to the slow-growing nature of the organisms. This report presents our experience in treating a patient with Haemophilus parainfluenzae endocarditis.
CASE PRESENTATION
We describe the case of a previously fit and well 23 year-old woman who presented to her local emergency department with a four-week history of persistent febrile illness. She had associated nausea, vomiting, and lethargy. This was preceded by an episode of mucopurulent rhinorrhoea. She was treated empirically with oral amoxicillin for a putative diagnosis of rhinosinusitis. Initially, her symptoms abated, however, she was readmitted with high fevers and a new pansystolic murmur. Transthoracic echocardiography revealed a large, mobile, echogenic mass, tethered to the posterior mitral valve leaflet (PMVL) and mild mitral regurgitation (MR). On examination, she had multiple non-tender, erythematous macules on the plantar surface of her feet, consistent with Janeway lesions. Two separate blood cultures grew H. parainfluenzae. Infectious diseases recommended a four-week course of intravenous ceftriaxone. Transesophageal echocardiography demonstrated a perforation within the P3 segment of the PMVL. Subsequently, the patient underwent mitral valve repair surgery with an uneventful recovery.
CONCLUSIONS
Our case highlights the importance of promptly diagnosing HACEK endocarditis. A prolonged course of antibiotic therapy can be lifesaving, and surgery is often necessary to address complications such as perforation within the mitral valve leaflets. In our patient, we were able to perform a sliding P2 leaflet plasty for good quality repair of the mitral valve, through a minimally invasive right anterior thoracotomy.
PubMed: 38709318
DOI: 10.1186/s43044-024-00482-6