Dysphagia Research Articles

6771 New onset Graves’ Disease in a Patient with Hashimoto's Thyroiditis and Positive Thyroid Peroxidase Autoantibodies. Case Report

Abstract Disclosure: M.M. Eid: None. J.L. Zapater: None. Introduction: Hashimoto’s Thyroiditis (HT) and Graves’ Disease (GD) are the most common thyroid autoimmune disorders. Transition of GD to HT is common, but transition of HT to GD is rare. Case: A 55 year old, female with depression, HTN and fibromyalgia. She was referred for evaluation of chronic fatigue and reduction in functional capacity. Five years earlier, she had also been evaluated for fatigue. Labs at that time: TSH 3.80 µIU/ml (0.35-3.74 µIU/ml), free T4 0.8 ng/dl (0.76-1.46 ng/dl), thyroid peroxidase antibody (anti-TPO) 605.6 U/ml (0-60 U/ml), and anti-thyroglobulin antibody (anti-TG) 37.2 U/ml (0-60 U/ml). Subclinical hypothyroidism was diagnosed, but no levothyroxine was initiated. Her TSH was found to be normal in 2019 and 2021. At the current clinical encounter, other than fatigue she denies weight/voice change, tremor, palpitation, anxiety, recent flu like illness or radiation exposure, neck swelling/pain, heat intolerance, or difficulty swallowing. Her daily medications are amlodipine 10mg and duloxetine 20mg. She had menopause 2 years ago. She has no known allergy. She has a brother with rheumatoid arthritis. She denies smoking or alcohol consumption. On exam, vital signs are normal, and BMI is 28.1. There is diffuse, firm thyromegaly without a palpable nodule. There is no cervical lymphadenopathy, tremor, neck tenderness, exophthalmos, or lid lag. Creatinine, liver enzymes are normal but hemoglobin is 9gm/dl. Anti-tissue transglutaminase and anti-gliadin antibodies were negative. Her thyroid labs were: TSH <0.008 uIU/ml, free T4 1.06ng/dl, free T3 4.07 pg/ml (2.3-4.2 pg/ml), total T3 1.74 ng/ml (0.60-1.81 ng/ml), anti-TPO antibody 12,414 U/ml, anti-TG antibody 22 U/ml, thyrotropin receptor antibody (TRAB) 15.24 IU/L (0-1.75 IU/L), and thyroid stimulating immunoglobulin (TSI) 331% (<130%). Thyroid uptake scan showed 49% iodine-131 uptake in symmetric and homogenous uptake, and no hot or cold nodules. GD was diagnosed, methimazole 5mg daily was initiated. Conclusion: Our case had subclinical HT with positive anti-TPO antibodies 5 years preceding the onset of GD. Causes of autoimmune conversion are not well understood. Viral infection or radiation exposure in genetic susceptible patients have been assumed as triggers (1). The blocking and stimulating action of TRAB on TSH receptors is considered as a possible mechanism of switching between hypothyroidism and hyperthyroidism. Clinical and biochemical evaluation for possible conversion to GD in patients with HT is recommended (2).

6781 A Rare Case of Diffuse Large B Cell Lymphoma of the Thyroid

Abstract Disclosure: D. Deyar: None. M. Herrera: None. M. Ahmad: None. P. Ucciferro: None. Introduction: Primary thyroid lymphoma (PTL) is rare, comprising less than 5% of thyroid cancers. It is frequently seen in middle-aged women and 1.5% of patients with Hashimoto’s thyroiditis. PTL may present with rapidly growing mass, dysphagia, stridor, or hoarseness. We describe a case of a female patient presenting with a neck mass and new onset hypothyroidism who was found to have DLBCL of the thyroid. We aim to raise clinical awareness regarding PTL and elucidate its association with Hashimoto’s disease and discuss treatment strategies. Case presentation: The patient was a 62-year-old female with a past medical history of type 2 diabetes, hypertension, and hyperlipidemia, presenting for worsening neck swelling for the past four weeks. She reported tenderness around the mass along with voice hoarseness and difficulty swallowing. She also reported increased shortness of breath associated with the mass while lying flat and denied any heat intolerance, cold intolerance, weight changes or bowel habit changes. The patient’s vitals were as follows: blood pressure: 146/104 mmHg, heart rate: 58 beats per minute, temperature: 36.3 C, respiratory rate: 20 breaths per minute. Initial blood work demonstrated the following: sodium: 137 mmol/L, potassium: 4.2 mmol/L, 9.4 mg/dL, white blood cell count: 12.1 × 109/L, hemoglobin: 14.5 g/dL, platelets: 330 × 109/L, thyroid stimulating hormone: 17.1 uIU/mL, free T4: 0.4 ng/dL, and TPO antibodies: 300 IU/mL. A CT scan of her neck demonstrated a left sided mass measuring 6.6 cm, by 5.6 cm, by 11 cm. The patient was started on 50 mcg of levothyroxine and was assessed by otorhinolaryngology and underwent fine needle aspiration biopsy. The patient’s biopsy demonstrated diffuse large B cell lymphoma of the thyroid gland. The patient was started on R-CHOP chemotherapy for her lymphoma as an outpatient and had a significant decrease in the size of her neck mass and improvement in her compressive symptoms. She is scheduled for six cycles of R-CHOP therapy and continues to follow with oncology. Discussion: Diffuse Large B Cell Lymphoma (DLBCL) of the thyroid is rare and necessitates distinct therapeutic considerations. Patients with Hashimoto's thyroiditis have been found to be 60-fold times more likely to develop primary thyroid lymphoma as compared to those without thyroiditis. The pathophysiology regarding this association remains unclear, however some suggest it may be due to chronic lymphocytic inflammation of the thyroid gland leading to monoclonal lymphocyte growth. Treatment of DLBCL of the thyroid requires immunotherapy, most commonly with the R-CHOP therapy which distinguishes it from the conventional management of thyroid carcinomas. Physicians should be vigilant in considering these treatment differences and to consider PTL as an etiology of growing thyroid mass in patients with Hashimoto’s thyroiditis. Presentation: 6/2/2024

12199 Uncontrolled Graves Disease Leading To The Development Of Pulmonary Hypertension

Abstract Disclosure: A. Agrawal: None. N. Shaykh: None. C. Marsalisi: None. L. Lam: None. C. Harrison: None. G.Y. Gandhi: None. Introduction: Graves’ disease can cause cardiorespiratory complications by increasing cardiac output, inducing endothelial dysfunction, and increasing the metabolism of intrinsic pulmonary vasodilating substances. Case: A 26-year-old female with a one-year history of Graves’ disease presented with chest pressure, shortness of breath, worsening orthopnea, a 40-pound weight loss, and subjective fevers. Her home methimazole dose was 10 mg daily, which she had missed for four days before admission. Her BP was 153/90 mmHg, heart rate 117 bpm, and temperature 100.7° F. She had mild bilateral proptosis and an enlarged but non-tender thyroid, which caused her difficulty swallowing. TSH was undetectable less than 0.005 mIU/L (0.27-4.2 mIU/L), and thyroid hormone levels were significantly elevated free T4 greater than 7.77 ng/dL (0.8-1.7 ng/dL) and free T3 29.1 pg/mL (2-4.4 pg/mL). TSI was high at 5.66 IU/L (0-0.55 IU/L) as was BNP at 1,642 pg/mL (0-125 pg/mL). Cardiac troponin was 105 ng/dL (less than 14 ng/dL) with a peak of 106 ng/dL. A Burch-Warsofsky score of 50 was highly suggestive of thyroid storm. She initially received 1 mg of IV propranolol, 1,000 mg of PTU, and 4 mg of dexamethasone followed by hydrocortisone 100 mg, methimazole 20, propanol 20 mg, and two doses of SSKI. A transthoracic echocardiogram was remarkable for severe right atrial and ventricular enlargement, and pulmonary artery pressure measured 55 mmHg (normal 20-30 mmHg). Autoimmune testing, including ANA, c-ANCA, p-ANCA, rheumatoid factor, anti-CCP, anti-SS-A, anti-SS-B antibodies, ultrasound for deep vein thrombosis, and ventilation-perfusion scan were negative. There was no history of congenital heart defects or valvulopathy. The patient reached a euthyroid state and was discharged home on methimazole 20 mg daily. Discussion: Although frequently underappreciated, pulmonary hypertension is present in 30 to 65% of Graves’ disease patients when systematically ascertained. Elevated thyroid hormones can increase heart rate, contractility, venous return, and cardiac output. An imbalance between vasoconstriction and vasodilation, along with endothelial dysfunction, can cause pulmonary vascular effects of hyperreactivity, remodeling, and thrombosis. An autoimmune mechanism is plausible due to an association between antithyroid antibodies and pulmonary hypertension. Right heart catheterization remains the gold standard for diagnosis, though in this case, it was not pursued in the acute setting. This case reinforces the importance of screening for pulmonary hypertension in patients with Graves’ disease and possibly normalizing pulmonary hypertension, thereby avoiding irreversible complications. Clinicians should consider reassessing for pulmonary hypertension even after long-term control of the thyrotoxic state, as about 30% of these patients have persistent pulmonary hypertension. Presentation: 6/3/2024

12199 Uncontrolled Graves Disease Leading To The Development Of Pulmonary Hypertension

Abstract Disclosure: A. Agrawal: None. N. Shaykh: None. C. Marsalisi: None. L. Lam: None. C. Harrison: None. G.Y. Gandhi: None. Introduction: Graves’ disease can cause cardiorespiratory complications by increasing cardiac output, inducing endothelial dysfunction, and increasing the metabolism of intrinsic pulmonary vasodilating substances. Case: A 26-year-old female with a one-year history of Graves’ disease presented with chest pressure, shortness of breath, worsening orthopnea, a 40-pound weight loss, and subjective fevers. Her home methimazole dose was 10 mg daily, which she had missed for four days before admission. Her BP was 153/90 mmHg, heart rate 117 bpm, and temperature 100.7° F. She had mild bilateral proptosis and an enlarged but non-tender thyroid, which caused her difficulty swallowing. TSH was undetectable less than 0.005 mIU/L (0.27-4.2 mIU/L), and thyroid hormone levels were significantly elevated free T4 greater than 7.77 ng/dL (0.8-1.7 ng/dL) and free T3 29.1 pg/mL (2-4.4 pg/mL). TSI was high at 5.66 IU/L (0-0.55 IU/L) as was BNP at 1,642 pg/mL (0-125 pg/mL). Cardiac troponin was 105 ng/dL (less than 14 ng/dL) with a peak of 106 ng/dL. A Burch-Warsofsky score of 50 was highly suggestive of thyroid storm. She initially received 1 mg of IV propranolol, 1,000 mg of PTU, and 4 mg of dexamethasone followed by hydrocortisone 100 mg, methimazole 20, propanol 20 mg, and two doses of SSKI. A transthoracic echocardiogram was remarkable for severe right atrial and ventricular enlargement, and pulmonary artery pressure measured 55 mmHg (normal 20-30 mmHg). Autoimmune testing, including ANA, c-ANCA, p-ANCA, rheumatoid factor, anti-CCP, anti-SS-A, anti-SS-B antibodies, ultrasound for deep vein thrombosis, and ventilation-perfusion scan were negative. There was no history of congenital heart defects or valvulopathy. The patient reached a euthyroid state and was discharged home on methimazole 20 mg daily. Discussion: Although frequently underappreciated, pulmonary hypertension is present in 30 to 65% of Graves’ disease patients when systematically ascertained. Elevated thyroid hormones can increase heart rate, contractility, venous return, and cardiac output. An imbalance between vasoconstriction and vasodilation, along with endothelial dysfunction, can cause pulmonary vascular effects of hyperreactivity, remodeling, and thrombosis. An autoimmune mechanism is plausible due to an association between antithyroid antibodies and pulmonary hypertension. Right heart catheterization remains the gold standard for diagnosis, though in this case, it was not pursued in the acute setting. This case reinforces the importance of screening for pulmonary hypertension in patients with Graves’ disease and possibly normalizing pulmonary hypertension, thereby avoiding irreversible complications. Clinicians should consider reassessing for pulmonary hypertension even after long-term control of the thyrotoxic state, as about 30% of these patients have persistent pulmonary hypertension. Presentation: 6/3/2024

8113 Thyroid Storm in a Patient with Thyroid Nodule on Anticoagulation

Abstract Disclosure: R. Kulkarni: None. S.S. Krishnasamy: None. N. Mon: None. R. Downs: None. Background: There are very few case reports related to hyperthyroidism due to anticoagulation use. We describe a case, of a less common cause of hyperthyroidism due to hemorrhagic thyroiditis in a patient on anticoagulation and history of metastatic colon cancer. Clinical case: A 67-year-old white male with PMH significant for colon cancer with liver metastasis s/p exploratory laparotomy with sigmoid colectomy, end-colostomy with Hartman's pouch creation, pre-diabetes, recent left IJ & axillary vein thrombus on Eliquis, and thyroid nodule; presented with complaints of shortness of breath, difficulty swallowing and dizziness. Other symptoms included weight loss, complaints of heart racing and generalized body aches. The patient had a recent admission for similar complaints and was newly diagnosed with left IJ/axillary vein thrombus and expanding hemorrhagic thyroid nodule on imaging. He was discharged on anticoagulation for the DVT with 2 week follow up for elective thyroidectomy for goiter. The patient was admitted to the ICU for worsened respiratory status needing ventilatory support and pressor support. Physical findings on admission included jaundice, sinus tachycardia, lethargy with agitation. Initial labs showed TSH 0.02 uIU/mL, FT4 4.85 ng/dL and FT3 6.8 pg/mL, LFTs >500 U/L. Burch-Wartofsky Point Scale score was >60 suggestive of thyroid storm. Imaging with PET CT was concerning for thyroid enlargement with multiple nodules with increased uptake. Thyroid US was consistent with heterogenous gland with hemorrhagic nodules. Based on clinical history, physical findings, diagnostic labs, and imaging the patient was diagnosed with severe hyperthyroidism with thyroid storm secondary to hemorrhagic thyroid nodules in the setting of anticoagulation. The patient underwent thyroid artery angiogram with particle embolization of left inferior and right superior thyroid arteries. Endocrinology started the patient on methylprednisolone, cholestyramine and propranolol. Thionamide was held since the patient had abnormal liver function tests in the setting of shock liver. The patient’s thyroid function slowly improved on current regimen to TSH 0.05 uIU/mL, FT4 1.7 ng/Dl and FT3 4.1 pg/mL on day 3. At the family interdisciplinary meeting, due to guarded prognosis, family opted for comfort care, and the patient finally succumbed to multiple co-morbidities. Conclusion: The case presented discusses diagnosis and management of less common causes of hyperthyroidism and management of thyroid storm in liver dysfunction. The patient would have needed a thyroid biopsy at a later date to rule out colonic metastasis as a cause of hemorrhage if he had survived the thyroid storm and comorbid illnesses. Presentation: 6/3/2024

8732 Hypercalcemia: When It’s Not PTH, Why Not Blame Your Neighbor?

Abstract Disclosure: D. Misra: None. M.R. Brennan: None. L. Misra: None. A 60-year-old female with a history of recently diagnosed hyperthyroidism, hypertension, and seizure disorder presents with a four-month history of neck swelling and pain. The patient was diagnosed with hyperthyroidism four months prior to admission and was started on methimazole 10 mg three times a day for two months, then instructed to decreased to 10 mg daily. In addition to the four months of neck swelling and pain, the patient also endorsed difficulty swallowing, palpitations, constipation, and bilateral ankle edema. Vital signs were stable other than a heart rate in the low 100s. Physical exam revealed a fixed painful L sided neck mass with no signs of airway compromise and bilateral exophthalmos. Labs revealed TSH <0.01 uIU/mL, Free T4 2.1 ng/dL, TSI was elevated (>40) IU/L. potassium 3.2 mmol/L, hypomagnesemia 1.3 mg/dL, troponin of 55 ng/l and hemoglobin 9.3 g/dL. The patient had a calcium of 10.6 mg/dL and an ionized calcium of 5.73 mg/dL with a normal PTH (34 pg/mL) and a low Vitamin D (22 ng/mL). A CT of the neck was performed showing marked thyromegaly with innumerable subcentimeter hypodense nodules in both lobes and a dominant 1.1 nodule in right lobe. Initial therapy involved correction of the electrolytes, telemetry monitoring, and a consultation to the endocrine service. The endocrine team started the patient on methimazole 10mg/daily and ordered a thyroid scan. Scintigraphy was performed and was consistent with Graves’ disease. On Day #2 the patient’s vital signs had normalized and the patient was able to swallow and tolerate a regular diet, The scan showed an enlarged thyroid with diffuse nodular character and moderate hyperemia consistent with diffuse thyroiditis. The scan also described a multinodular goiter with the largest nodule measuring 2.2 cm. She was discharged on Day #3 on methimazole 10mg daily and asked to follow up with endocrinology. Graves’ disease is a common cause of hyperthyroidism and is caused by autoantibodies that increase the production of thyroid hormone. Along with classic symptoms of hyperthyroidism, our patient had hypercalcemia. This was non-PTH mediated and in the absence of other signs or symptoms of a malignancy or granulomatous process, the hypercalcemia is likely due to her hyperthyroid state. Hyperthyroidism-associated hypercalcemia is a rare complication in hyperthyroid patients but should not be forgotten when evaluating non-PTH mediated hypercalcemia as it can be corrected easily with appropriate medications or in this case with the correction of the hyperthyroidism. Consideration of this etiology may also reduce the number of extraneous labs and imaging when no other common etiology is found. Presentation: 6/2/2024

6556 Does Autoimmune Hashimoto’s Hypothyroidism Mask the Diagnosis of Ehlers-Danlos-Syndrome?

Abstract Disclosure: S. Azmat: None. U. Rafat: None. J.L. Gilden: None. Does Autoimmune Hashimoto’s Hypothyroidism Mask the Diagnosis of Ehlers-Danlos Syndrome? Background: Hypothyroidism is well-known to be associated with muscle weakness and fatigue. There are other etiologies for decreased muscle tone such as Ehlers-Danlos syndrome (EDS) which is group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and tissue fragility. Other rheumatological and cardiac conditions associated with this syndrome can pose diagnostic challenges. We present case of 32-year-old female presenting with facial muscle weakness and newly diagnosed Hashimoto’s hypothyroidism. We highlight importance of keeping EDS as another differential in patients with muscle weakness allowing for accurate, prompt diagnosis and treatment to be done in timely manner. Case Description: A 32-year-old female professional musician was referred to Endocrine for mouth muscles weakness and decreasing ability to play her French Horn wind instrument with vocal dystonia and the question of whether these were symptoms of hypothyroidism. She was noted to have mild thyroid enlargement and abnormal thyroid function tests with positive thyroid antibodies. Initial TSH was 7.506 uIU/mL(0.55-4.78), free T4 0.9 ng/dL (0.76-1.46), peroxidase antibody = 96,061U/mL (0-60) and thyroglobulin of 134.9 U/mL (0-60). She also reported low energy, intermittent difficulty swallowing and decreased muscle strength. There was no prior personal and family history of hypo/hyperthyroidism or any other disorders. VS were normal, physical exam showe d no thyromegaly, reflexes revealed objective decrease but normal muscle strength. The skin was noted to be hyperextensible with passive hyperextension of fifth metacarpophalangeal joint beyond 90 degrees, thumb to flexor aspect of forearm and elbows bilaterally with positive Beighton criteria for EDS. She later admitted to intermittent palpitations and easy bruising. Subsequent lab tests were negative ANA, anti-mitochondrial, PCEL and striated muscles antibodies. Additionally she had normal IGA, PTH, AM cortisol- ACTH, vitamin B12 levels with negative 21 hydroxylases antibodies and celiac titers. She was started on levothyroxine 25 mcg and recommended for Cardiology evaluation and genetic testing. Physiotherapy was started. Upon six months follow-up she clinically felt better with improved muscle strength, swallowing and energy level. Repeat lab testing showed improved TSH of 2.67 uIU/mL(0.55-4.78) with free T4 of 1.0 ng/dL (0.76-1.46). Conclusion: This case demonstrates that although muscle weakness can be symptom of hypothyroidism one must evaluate all patients for other possible causes. We highlight importance of keeping EDS as a differential especially in female patients with muscle weakness. Though history and physical exam is crucial allowing for prompt diagnosis and treatment for other conditions. Presentation: 6/1/2024

Perinatal and Neonatal Chikungunya virus Transmission: a case series.

Large-scale epidemics in countries with high birth rates can create a concerning scenario where pregnant people are more likely to transmit the virus. Additionally, increased international mobility has made arboviruses a growing problem for travelers. The increased risk of vertical transmission has been related to maternal viremia near delivery. Such transmission leads to severe infection of newborns and may be associated with subsequent neurological impairment including cerebral palsy. This case series provides an overview of clinical and laboratory findings in pregnant individuals with confirmed CHIKV infection as well as the clinical effects on their newborn emphasizing the severity of neonatal chikungunya. an ambispective case series enrolled newborns with confirmed exposure to CHIKV in utero or in the neonatal period. during the delivery period, the transmission rate among viremic individuals was approximately 62% (18/29). Fever, irritability, rash, and poor feeding in the first week of life were critical signs of neonatal chikungunya, highlighting its severity. Close monitoring of healthy newborns during the first week of life is essential in areas affected by CHIKV epidemics, and in offspring of pregnant travelers who visited the outbreaks zones. This case series is intended to increase neonatologists' awareness of the possibility of mother-to-child transmission of CHIKV among newborns with a sepsis-like presentation. Prioritizing CHIKV vaccination for women of childbearing age should also be considered.

Prediction of feeding difficulties in neonates with hypoxic-ischemic encephalopathy using magnetic resonance imaging-derived radiomics features.

The mechanisms behind brain and spinal cord injuries in hypoxic-ischemic encephalopathy (HIE) and associated feeding difficulties are unclear, with previous magnetic resonance imaging (MRI) attempts yielding inconclusive results. We aim to evaluate an MRI radiomics model for predicting feeding difficulties in HIE infants. Additionally, we investigate changes in predictive capability after incorporating the duration of mechanical ventilation and the timing of MRI examination. Retrospective study with 151 HIE infants (January 2013 to December 2021), randomly divided into training and validation sets. Radiomics features extracted from basal ganglia-thalamus and brainstem in T1-weighted and T2-weighted MRI. Established single-modality, single-site, and multimodality/multisite models. Receiver operating characteristic analysis and area under the curve evaluated models. Decision curve analysis assessed changes in predictive capability. The combined radiomics model of the basal ganglia-thalamus and brainstem regions on the T2-weighted imaging demonstrated superior performance (area under the curve: 0.958 and 0.875 for training and validation, respectively). Combining scores with duration of mechanical ventilation and MRI examination time in a calibration plot model improved and stabilized performance, showing high fitting and clinical utility. Decision curve analysis favored the combined calibration plot model. The MRI-based radiomics model predicts feeding difficulties in HIE infants, with basal ganglia-thalamus and brainstem as relevant factors. The combined calibration plot model exhibits the highest clinical predictive efficacy.

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.

Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in PURA cause the neurodevelopmental disorder PURA syndrome that has a variable phenotype but typically comprises moderate-to-severe global developmental delay, intellectual disability, early-onset hypotonia and hypothermia, epilepsy, feeding difficulties, movement disorders, and subtle facial dysmorphism. Speech is reportedly absent in most, but the specific linguistic phenotype is not well described. We used genome sequencing to identify a pathogenic gene variant as part of a study of children ascertained for severe primary speech disorder in the absence of moderate or severe ID. The novel PURA c.296G>T (p.Arg99Leu) pathogenic missense variant segregated in the female proband and her affected mother. The proband had dysarthria; phonological disorder; and severe receptive and expressive language impairment, borderline intellect, attention difficulties, oropharyngeal dysmotility, and dysmorphic facial features. Her mother had dysarthria, moderate receptive language impairment, and borderline intellect. Both the proband and her mother completed mainstream schooling with classroom support. This is the first inherited PURA pathogenic germline variant in over 600 unrelated families documented on ClinVar or reported in the literature. PURA testing should be considered in families with primary speech disorder and borderline intellectual disability, given the specific genetic counseling implications.

Feeding difficulties in childhood: A narrative review.

It has been estimated that between 25% and 40% of healthy children show symptoms of feeding difficulties (FDs) during their growth and development; manytimes,thesearenotadequatelydiagnosed. Theobjectiveofthisstudywastoconductanarrativereviewthatcollectedtheavailableinformationonfeedingdifficulties.Assessmentandmanagementalgorithmsweredevelopedbasedonthebibliographicevidence. Mostfeedingproblemsinyoungchildren(feedingselectivity,lossofappetite,fearoffeeding)areoftenconcurrent,andaclinicalriskassessmentisnecessarytoplananindividualizedintervention. Havingstandardizeddefinitionsandcommontermstoaddressthesedifficultiesinanappropriateandmultidisciplinarymannerisoneofthewaystooptimizetheirtreatment.Theinvolvementofdifferenthealthcareprovidersandparentsiscriticaltoaddressfeedingdifficulties.

Outpatient Infant Botulism in the United States, 1976-2021

To characterize cases of outpatients with infant botulism (IB) in the United States (US) identified by the Infant Botulism Treatment and Prevention Program (IBTPP) at the California Department of Public Health (CDPH) from 1976 through 2021. Outpatient IB cases were defined as patients presenting with an illness consistent with the known paralyzing action of botulinum neurotoxin (BoNT) and with laboratory confirmation. Outpatient cases were distinguished from the majority of patients with IB by the atypical fact that they did not require hospitalization throughout the course of their illness. Of the 4372 cases of IB identified by the IBTPP over a 45-year period (1976-2021), 17 (0.4%) were outpatient cases. Most (11/17; 65%) cases occurred in California. The median age at disease onset was 20 weeks (range = 6 to 55 weeks). The most common symptom among cases was constipation (16/17; 94%). Most patients (16/17; 94%) had at least one cranial nerve palsy, manifested as decreased head control, ptosis, weak cry, or poor suck. Outpatient IB occurs nationwide, although clinical diagnosis may be difficult because the severity of symptoms do not necessitate hospitalization or more comprehensive clinical intervention. Identification of outpatient cases requires an astute clinician and a capable, willing diagnostic testing laboratory. It is likely that more outpatient cases of IB are occurring than are presently recognized in infants mildly affected by this disease. Healthcare providers should consider the possibility of IB when presented with a previously well infant with failure to thrive, poor feeding, constipation, mild hypotonia, or cranial nerve palsy.

Breast Milk Application as a Natural Method for Umbilical Cord Care: A Community-Label 3-Arm Pilot Clinical Trial

Abstract Objective To compare the effects of human breast milk with those of chlorhexidine and the dry method on umbilical cord separation in Ethiopia. Methods This open-label 3-arm nonrandomized pilot clinical trial was conducted among 45 neonates (15 in each arm) with more than 630 home visits. After a standard cord cut, human breast milk, chlorhexidine, or nothing was applied once per day for 7 days. The primary outcome was the duration of cord separation, while the secondary outcomes were umbilical cord infection, neonatal fever, jaundice, feeding and breathing difficulty, and persistent crying. Results There were statistically significant differences in the time-to-cord separation between the human breast milk group and the chlorhexidine (P < 0.001) and dry alone (P = 0.038) groups. Compared to those of chlorhexidine, the rates of cord separation among human breast milk and the dry-alone group were 16.02, with 95% confidence intervals (3.81, 37.43; P < 0.001) and 3.15 (0.99, 10.00; P = 0.052), respectively. One (6.7%) cord site infection was observed in the dry-alone groups only. Conclusion This community-label study indicated that human breast milk application significantly shortened the length of umbilical cord separation time compared to chlorhexidine and dry methods. A large-scale randomized controlled trial is needed to confirm these results. Registration PACTR202310902873290; https://pactr.samrc.ac.za

The Subtle Signs Of Neonatal Grave’s Disease- ACase Report And Review

A newborn male is born via caesarean section at 37 weeks of gestation to a 25-year-old primigravida mother. Mother was a known case of Grave’s disease (TSH receptor antibody positive) on Carbimazole with gestational diabetes mellitus on Insulin, her antenatal course was otherwise uneventful, with normal fetal heart rate monitoring and appropriate fetal growth. She was admitted with complaints of pain abdomen and decreased fetal movement. She was planned for emergency section and a live, healthy male baby was born with a birth weight of 2.962 kg, appropriate for gestation age with APGAR 8/9. Postnatal examination was negative for congenital anomalies and no systemic involvement was noticed. The baby was discharged on close follow-up. On day 7th of life, the baby was re-admitted for phototherapy. In this admission, the baby was noticed to have a resting tachycardia heart rate of 170-180/min, no murmur or abnormal heart sound was noticed on examination. The baby had no significant weight loss or history of feeding difficulties. In consideration of maternal grave disease, a further workup for the baby was planned, which revealed a Cord TSH (0.007microIU/ml) range (2.30-13.20) and free T4 1.52 ng/dl (Range 1.10-2.00). Further, the workup revealed TSH receptor antibody positive 23.76 IU/L range (less than 1.22), free T4 7.77 ng/dl (1.120-2.00), TSH less than 0.005 microIU/ml. However, As per the paediatric Endocrinologist's opinion, the baby was started on propranolol and propylthiouracil. The resting tachycardia resolved upon starting the drug. On subsequent follow-up, the baby had an improving thyroid profile

Investigation on in-situ tensile behaviors of 6061 aluminum alloy fabricated by wire additive friction stir deposition

Rod based additive friction stir deposition (R-AFSD) offers unique advantages for the integrated manufacturing of aluminum alloy near-net-shape large parts. However, the deposition process often faces issues like thick ends of raw material rods and difficulties in continuous feeding. In this study, wire based additive friction stir deposition (W-AFSD) was used for the solid state deposition of 3 mm diameter 6061 aluminum alloy wire. The microstructure evolution and mechanical properties of the deposit along the build direction were systematically characterized, clarifying the recrystallization mechanism and isotropy of the mechanical properties. In-situ scanning electron microscopy (SEM) and electron backscattered diffraction (EBSD) were used to study the deformation behavior of the deposit during in situ tensile testing, revealing a cooperative deformation mechanism involving grain rotation and intragranular slip. Results show that during in-situ tensile testing, the average rotation angle of five selected grains is 6.90°. Additionally, deposits with numerous grain boundaries due to recrystallization can hinder dislocation movement and pin the slip system within the grains during tensile testing. Due to the synergy of these mechanisms, the yield strengths of the longitudinal and transverse samples of the deposit are 183 MPa and 190 MPa, respectively, much higher than previously reported values. This article introduces a new solid state additive manufacturing method, offering new insights for efficient, high-strength continuous additive manufacturing of aluminum alloys and their deformation mechanisms.

Recent advances in the diagnosis and treatment of dysphagia in neurological diseases

Swallowing disorders are common in many neurological diseases, especially in stroke, Parkinson’s disease, amyotrophic lateral sclerosis, dementia, and multiple sclerosis. Neurogenic dysphagia is associated with an increased risk of death and serious complications, including aspiration pneumonia, dehydration, and malnutrition, which points to the importance of implementing recent advances in the diagnosis and treatment of swallowing disorders into neurological practice. If the initial screening for swallowing disorders is positive, further workup includes a combination of bedside tests and ancillary investigations, such as comprehensive clinical, videofluoroscopic and endoscopic swallowing evaluation. These measures allow to determine the type and degree of dysphagia severity, which is necessary for choosing the optimal therapeutic strategy. Treatment of patients with neurogenic dysphagia requires multidisciplinary approaches involving a team of specialists, including neurologists, speech and language therapists, gastroenterologists, and dietitians. Therapeutic strategy should include providing adequate nutritional support by diet modification and/or enteral nutrition through a nasogastric tube or gastrostomy, appropriate management of underlying and concomitant diseases, prevention and treatment of complications as well as rehabilitation interventions. Future directions to reduce swallowing disorders in neurological diseases will probably comprise a combination of rehabilitation measures with pharmacotherapy and non-invasive stimulation/neuromodulation. Early detection and effective treatment of dysphagia is crucial for achieving better outcomes and improving the quality of life in patients with neurological diseases.

Unmet Needs Post Stroke: Level of Unmet Need According to Discharge Destination

Abstract Background Stroke survivors often face unmet needs after leaving acute and rehabilitation services (McKevitt et al., 2011). UK and Ireland stroke guidelines (2023) advise a 6-month health and social care review for all patients, yet resource access in hospital and community settings hinder this. Targeting those with the most unmet needs could improve service delivery. Consequently, we examined unmet needs of stroke patients post-rehabilitation, comparing those who were discharged to rehabilitation (RG) to the non-rehabilitation group (NRG). Methods Participants: All patients attending a post-stroke review clinic between March 2023 and April 2024. Groups: RG included patients discharged to Early Supported Discharge or inpatient rehabilitation; NRG included patients not discharged to these services. Data: Collected demographic information and assessed unmet needs using a modified Greater Manchester Stroke Assessment Tool. Analysis: Using Microsoft Excel, group comparisons were made using chi-squared tests and t-tests, with log transformation applied to non-normally distributed data. Results 251 patients attended during the data collection period (69 patients (27%) in RG, 182 patients (73%) in NRG). The average age was 68 in both groups. The RG had a longer mean length of stay (23 days) compared to the NRG (19 days) (p=0.0007). The RG also had a higher mean score on the clinical frailty scale (RG 4, NRG 3, p=0.05). In the RG, 97% reported no follow-up after discharge, compared to 78% in the NRG. A greater proportion of RG patients reported swallow difficulties (12% vs. 3%, p=0.03), mobility difficulties (46% vs. 30%, p=0.02), and falls (41% vs. 30%, p=0.008) compared to NRG patients. Conclusion Data from this exploratory study suggests substantial unmet needs among post-stroke patients with a significantly higher level of unmet needs among patients who were discharged to post-acute rehabilitation. Despite this, the majority of these patients were not seen by community services at the time of 6-month review.

Validation of the Swedish Dynamic Imaging Grade of Swallowing Toxicity for Flexible Endoscopic Evaluation of Swallowing (DIGEST-FEES).

In the head and neck cancer (HNC) population around 45% suffer from chronic swallowing difficulties after cancer treatment. Previously a measure for flexible endoscopic evaluation of swallowing (FEES) where swallowing efficiency, safety and overall ability is evaluated within the same framework has been lacking. The Dynamic Imaging Grade of Swallowing Toxicity for FEES (DIGEST-FEES) was developed in 2021 and provides such a measure for patients with HNC. The aim of this study was to translate and validate the DIGEST-FEES into Swedish (Sw-DIGEST-FEES). A translation of the protocol to Swedish was done through forward-backward translation. Two raters rated eighty-nine FEES recordings according to the Sw-DIGEST-FEES and five reference measures of swallowing ability: Yale Pharyngeal Residue Severity Rating Scale, Swallowing Performance Scale, Murray Secretion Scale, MD Anderson Dysphagia Inventory and Penetration Aspiration Scale. Intra- and interrater reliability was analyzed. Construct validity was evaluated by correlating the Sw-DIGEST-FEES ratings to the reference measures. A priori hypothesis was that the correlations would correspond to those of the reference measures included in the original English version. The Sw-DIGEST-FEES demonstrated retained psychometric properties. Construct validity was good. 79% of correlations to the reference measures were equal to or stronger than those in the original development. Inter-rater agreement of the Sw-DIGEST-FEES ranged from substantial to almost perfect (0.76-0.81). Intra-rater reliability was in general almost perfect (0.8-1). The Sw-DIGEST-FEES can be considered a valid and reliable protocol for use in evaluation of swallowing function in HNC patients.

A long way to syndromic short stature

BackgroundSilver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features such as triangular facial appearance, broad forehead, body asymmetry and significant feeding difficulties. The incidence is unknown but estimated at 1:30,000-100,000 live births. The diagnosis of SRS is guided by specific criteria described in the Netchine–Harbison clinical scoring system (NH-CSS).Case presentationHereby we describe four patients with syndromic short stature in whom, despite fitting the criteria for SRS genetic analysis (and one on them even meeting the clinical criteria for SRS), molecular analysis actually diagnosed a different syndrome. Some additional features such as hypotonia, microcephaly, developmental delay and/or intellectual disability, and family history of growth failure, were actually discordant with SRS in our cohort.ConclusionsThe clinical resemblance of other short stature syndromes with SRS poses a risk of diagnostic failure, in particular when clinical SRS only criteria are met, allowing SRS diagnosis in the absence of a positive result of a genetic test. The presence of additional features atypical for SRS diagnosis becomes a red flag for a more extensive and thorough analysis. The signs relevant to the differential diagnosis should be valued as much as possible since a correct diagnosis of these patients is the only way to provide the appropriate care pathway, a thorough genetic counselling, prognosis definition, follow up setting, appropriate monitoring and care of possible medical problems.

Impact of Social Vulnerability, Race, and Urbanicity on Early Nutritional Outcomes in Patients With Cleft Palate.

Patients with cleft palate experience early feeding difficulties, resulting in increased hospital utilization due to poor nutritional status. Sociodemographic factors may impact access and outcomes for cleft patients. This study investigates the association of social vulnerability, race, and urbanicity on birth encounter metrics and failure to thrive (FTT) rates for patients with cleft palate. Retrospective data from 2013 to 2023 was queried from Cosmos, a national deidentified database from Epic electronic health record. Birth metrics, the prevalence of FTT, and MyChart activation rates were compared across sociodemographic cohorts based on (1) social vulnerability index (SVI) quartiles, (2) patient race, and (3) USDA Rural-Urban Commuting Area (RUCA) codes using χ2 or Fisher exact tests. There were 92,437 patients diagnosed with cleft palate. Birth weight was lower in socially vulnerable and Black patients (SVI 75%: 101.50±1.57oz; SVI 25%: 106.40±1.85oz; Black: 95.3±2.63oz; White: 104.90±1.02oz; Other: 104.80±2.09oz), and length of stay was longer (SVI 75%: 21±2.39d; SVI 25%: 15±2.18d; Black: 22±4d). FTT related admissions increased with SVI quartile (Q25: 0.19%; Q25-50; 0.29%, Q50-75: 0.34%; Q75: 0.47%; P<0.001). An opposite trend was observed for MyChart activation rates (P<0.001). High SVI and Black patients are susceptible to unfavorable nutritional outcomes. Access disparities, such as direct-to-provider communication systems (ie, MyChart), may contribute. Awareness of social identities, geography, and community may assist in providing individualized care in early life.