Intrauterine Fetal Demise: A Rare Complication of Wernicke's Encephalopathy Secondary to Hyperemesis Gravidarum.

Wernicke's encephalopathy (WE) is an acute neurological disorder caused by severe thiamine deficiency that manifests with a common range of clinical features including a triad of global confusion state, ophthalmoplegia, and ataxia. Though frequently associated with the alcohol-dependent population, WE has been seen in other patients where it often goes undiagnosed presumably due to rarity and variable clinical indications. In this case report, we highlight the importance of WE being considered as a differential diagnosis of acute encephalopathy particularly in women who have experienced fetal demise in conjunction with signs of malnourishment from hyperemesis gravidarum.

Imaging Findings in Pediatric Accessory Cranial Sutures using 3D CT Reconstruction: Fracture or Rudimentary Suture.

Objective: Although accessory sutures are considered to be relatively rare, the consequences of a missed diagnosis are profound. Distinguishing between accessory sutures and cranial fractures can be difficult, especially in cases of suspected non-accidental trauma. High-resolution imaging is the best way to discern between two- and three-dimensional computerized tomography (3D CT) is considered the preferred method for evaluation. The goal of this study was to determine the impact of 3D CT scans in distinguishing between accessory sutures and cranial fractures in suspected child abuse cases in a rural community and the importance of early detection in such cases, as well as call attention to the consequences of initial misinterpretation. Materials and methods: The researchers conducted a retrospective chart review of all pediatric patients diagnosed with cranial fractures (265 in total) at University Medical Center between May 30, 2016, and May 30, 2021. Initial computed tomography (CT) scans and subsequent 3D CT scans were evaluated for each patient that fit the inclusion criteria, 13 in total. Patients were then categorized into two groups based on the final diagnosis on the radiology report: accessory cranial suture or cranial fracture. Once these patients were identified, the etiology and structural components of each were evaluated, and the key differences were highlighted. Results: Our results showed that, of the 11 cases of suspected non-accidental trauma, six were finally diagnosed with accessory sutures with the use of 3D CT scans, and of those six, four were diagnosed with cranial fractures from the initial CT scan report due to a similar presentation and asymmetric nature. Conclusion: Discerning between fracture and accessory suture is essential in evaluating pediatric patients presenting with signs of cranial fracture due to the increased risk of misinterpretation that can lead to severe legal consequences considering that cranial suture variants may mimic intentional injury and be mistaken for child abuse, causing significant distress for patients and their families.

Association of Cerebellar Tonsil Dynamic Motion and Outcomes in Pediatric Chiari I Malformation.

OBJECTIVE: Chiari I malformation (CM-1), traditionally defined as a descent of the cerebellar tonsils by 5 mm or more, is surgically managed via posterior fossa decompression. However, there is currently no clear radiologic or symptomatic selection criteria for surgical intervention to indicate which patients may see the most improvement following decompression. METHODS: This retrospective pilot study included 22 patients who had symptomatic CM-1 managed via surgical decompression and 22 patients who had nonoperative management of CM-1. Tonsillar motion was assessed using phase-contrast magnetic resonance imaging and 2-dimensional fast imaging employing steady-state acquisition. Both quantitative and qualitative results that best described the CM-1 anatomy, radiologic measurements, and tonsillar motion were obtained and analyzed. RESULTS: Statistical analysis suggested that clinical symptoms differ based on tonsillar motion (P = 0.0044). Surgical patients had significantly more tonsillar motion than nonsurgical patients (P = 0.0010). Among the patients who underwent suboccipital decompression, the presurgery to postsurgery change in clinical symptoms was statistically significant (P < 0.0001), with all clinical symptoms showing decreased prevalence postsurgery. Anterior flow (P = 0.0004) and posterior flow (P < 0.0001) had significant negative associations with tonsillar motion. CONCLUSIONS: Tonsillar motion correlated positively with increased clinical symptoms of CM-1. Furthermore, tonsillar motion was associated with impaired cerebrospinal fluid flow that manifested in increased clinical symptoms. We recommend use of 2-dimensional fast imaging employing steady-state acquisition and assessment of cerebrospinal fluid flow as an adjunct to both clinical judgement and magnetic resonance imaging when selecting patients with CM-1 who would best benefit from surgical decompression.

Dysphagia lusoria in a young woman with chest pain.

Patients with dysphagia often have an esophageal disorder. This case report describes a patient with persistent dysphagia and chest pain who had a normal esophagogastroduodenoscopy. Computed tomography of the chest with contrast revealed an aberrant right subclavian artery compressing the esophagus. A vascular procedure was performed and corrected the dysphagia. This case demonstrates that aberrant vessels can occasionally cause dysphagia.

Spontaneous Resolution of Aberrant Cerebellar Tonsil Movement in a Patient with Improving Chiari I Malformation.

Chiari malformation Type 1 (CMI) is traditionally characterized as a descent of the cerebellar tonsils more than 5mm below the foramen magnum. In some patients with CMI, there is aberrant pulsatile movement of the tonsils downward during cardiac systole which can affect cerebrospinal fluid (CSF) flow at the foramen magnum. Here, we present an 18-year-old female patient with CMI who presented with worsening symptoms of her CMI. Magnetic resonance imaging (MRI) at this time indicated an increase in cerebellar tonsil movement and decreased CSF flow at the foramen magnum. At her follow-up appointment, she had complete resolution of the aberrant motion of her tonsils and CSF flow returned to baseline without surgical intervention. Her symptoms also improved during this time, and she is now able to be followed by her primary care physician. The increased pulsatile movement of cerebellar tonsils in patients with CMI has been linked to diminished CSF flow at the foramen magnum and symptom severity. Spontaneous resolution of CMI is rare and has only ever been documented as ascension of the cerebellar tonsils. This case describes restoration of normal tonsil movement and baseline CSF flow corresponding with a resolution of symptoms where a complete resolution in tonsillar ectopia was not present.

Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging.

Pyruvate dehydrogenase complex deficiency is a rare and underdiagnosed disease. It can present with clinical manifestations as early as in utero. Both genetic and metabolic testing are available to determine the presence of the disease. Key to survival is early detection and diagnosis, with dietary treatment to prevent further neurological and structural damage to the brain. We present a newborn who presented with ultrasound brain abnormalities in utero that mimicked cytomegalovirus but was diagnosed with pyruvate dehydrogenase complex deficiency after genetic testing.

Importance of early recognition and management of delusional parasitosis.

Delusional parasitosis (DP) is a psychiatric condition characterized by an individual's persistent belief that she or he is infested with pathogens when no such infestation is medically present. Family education on safety is needed before discharge due to the high risk of self-injury when patients try to rid themselves of the parasite. We present the case of a woman who presented twice with self-inflicted injury with a foreign body to the head to eliminate supposed tapeworms in her brain; she declined antipsychotic medication and psychiatric referral after the first emergency department visit only to come back with a more serious injury requiring a frontoparietal craniotomy. This clinical situation underscores the importance of psychiatric assessment to ascertain a patient's risk to themselves. Neuroimaging should be considered in the evaluation of elderly patients presenting with new-onset psychiatric complaints.

Pigmented epithelioid melanocytoma: a rare lytic bone lesion involving intradural extension and subtotal resection in a 14-month-old girl.

Pigmented epithelioid melanocytomas (PEMs) are low-grade, intermediate-type borderline melanocytic tumors with limited metastatic potential. To date, PEMs have been treated via gross-total resections. Postoperative recurrence and mortality are rare. This case highlights a unique presentation of a PEM that involved bone destruction and intradural infiltration, which required a subtotal resection. To the authors' knowledge, this is the first report of a PEM extending through the dura and necessitating subtotal resection, which is contrary to the standard of care, gross-total resection. Surveillance imaging 10 months after resection remained negative for clinical and radiological recurrence.

Gangrenous appendicitis contained within a Spigelian hernia.

A 66-year-old man with abdominal pain had a 5-year-old mass subsequently identified as a Spigelian hernia. Exploratory laparotomy revealed a strangulated and gangrenous appendix contained within the hernia, necessitating an appendectomy. This case highlights the importance of early identification and exploration of this rare hernia, so that early management can prevent the development of more serious and dangerous symptoms.

Medulloblastoma in a toddler with Gorlin syndrome.

Gorlin syndrome (GS) is a rare hereditary multisystem disorder caused by mutations in PTCH1, PTCH2, or SUFU. It is characterized by multiple anomalies and an increased risk of developing various tumors. Basal cell carcinoma is most common, and medulloblastoma (MB) is especially frequent in patients with SUFU mutations. MB treatment often includes radiation therapy in patients older than 3 years; however, such treatment is very toxic to patients with GS. Most reported cases of MB in patients with GS present after GS is diagnosed. We report a male toddler with multicentric posterior fossa tumor and calcifications along the falx cerebri, suggesting MB and GS. Pathology revealed nodular MB. His testing confirmed a germline SUFU mutation. His tumor resolved with three induction cycles of chemotherapy, but he died of respiratory failure due to infection at 20 months of age. Overlooking calcifications along the falx cerebri in children with MB can induce significant morbidity.

Acute bacterial prostatitis in an adolescent patient following blunt trauma.

Acute bacterial prostatitis is a common disease among adults. Acute bacterial prostatitis in the pediatric population is rare with only a few case reports in the literature. This case highlights an unusual presentation of prostatitis in a 16-year-old who presented with suprapubic pain and hematuria following blunt trauma to the lower abdomen.

Hydrogen Peroxide Induced Colitis: A Case Report and Literature Review.

Constipation is a common condition. Hydrogen peroxide enemas have rarely been reported as a home remedy for constipation in the pediatric age group. We present a case report and literature review of hydrogen peroxide induced colitis in pediatric siblings, aged 2 years and 9 years. The siblings presented with vomiting and bloody diarrhea an hour following the enema. Physical exam, vital signs, blood, and electrolyte counts were normal, but CT scans showed mucosal thickening of the rectum and colon. Their symptoms resolved after oral intake was curtailed and fluids were replaced intravenously. We discuss existing reports of complications from hydrogen peroxide enemas. Patients may present with abdominal pain and bloody diarrhea. Onset of symptoms varied from minutes to a day and bowel ulceration with necrosis and perforation has occurred, although fatality is rare. Diagnostic tests included computed tomography (CT) scan, sigmoidoscopy, or biopsy. Recovery period ranged from 3 days to 8 months. Public education regarding the dangers of hydrogen peroxide enemas is needed.

Generation of chickens expressing Cre recombinase.

Cre recombinase has been extensively used for genome engineering in transgenic mice yet its use in other species has been more limited. Here we describe the generation of transgenic chickens expressing Cre recombinase. Green fluorescent protein (GFP)-positive chicken primordial germ cells were stably transfected with ß-actin-Cre-recombinase using phiC31 integrase and transgenic chickens were generated. Cre recombinase activity was verified by mating Cre birds to birds carrying a floxed transgene. Floxed sequences were only excised in offspring from roosters that inherited the Cre recombinase but were excised in all offspring from hens carrying the Cre recombinase irrespective of the presence of the Cre transgene. The Cre recombinase transgenic birds were healthy and reproductively normal. The Cre and GFP genes in two of the lines were closely linked whereas the genes segregated independently in a third line. These founders allowed development of GFP-expressing and non-GFP-expressing Cre recombinase lines. These lines of birds create a myriad of opportunities to study developmentally-regulated and tissue-specific expression of transgenes in chickens.

Rapidly enlarging neck mass in a neonate causing airway compromise.

Up to 20% of all congenital pediatric head and neck masses are branchial cleft cysts. Second branchial cleft cysts account for 95% of branchial anomalies, and fourth branchial cleft cysts are the rarest type. Their typical presentations include non-life-threatening symptoms, such as drainage, skin irritations, minor swelling, and tenderness. We describe a 5-week-old neonate with increasing stridor secondary to a rapidly growing neck mass. Imaging and surgical excision confirmed the mass to be an infected fourth branchial cleft cyst.

Inserting random and site-specific changes into the genome of chickens.

During the past decade, modifications to the chicken genome have evolved from random insertions of small transgenes using viral vectors to site-specific deletions using homologous recombination vectors and nontargeted insertions of large transgenes using phi-31 integrase. Primordial germ cells (PGC) and gonocytes are the germline-competent cell lines in which targeted modifications and large transgenes are inserted into the genome. After extended periods of in vitro culture, PGC retain their capacity to form functional gametes when reintroduced in vivo. Rates of stable germline modification vary from 1×10(-5) for nontargeted insertions to 1×10(-8) for targeted insertions. Following transfection, clonally derived cell lines are expanded, injected into Stage 13-15 Hamburger and Hamilton embryos, and putative chimeras are incubated to term in surrogate shells. Green fluorescent protein (GFP) is incorporated into transgenes to reveal the presence of genetically modified PGC in culture and the extent of colonization of the gonad during the first week posthatch. If the extent of colonization is adequate, cohorts of putative chimeras are reared to sexual maturity. Semen is collected and the contribution from donor PGC is estimated by evaluating GFP expression using flow cytometry and PCR. The most promising candidates are selected for breeding to obtain G1 heterozygote offspring. To date, this protocol has been used to (1) knockout the immunoglobulin heavy and light chain genes and produce chickens lacking humoral immunity, (2) insert human V genes and arrays of pseudo V genes into the heavy and light immunoglobulin loci to produce chickens making antibodies with human V regions, (3) insert GFP into nontargeted locations within the genome to produce chickens expressing GFP, and (4) insert Cre recombinase into the genome to produce chickens that excise sequences of DNA flanked by loxP sites.

Parotid swelling and chronic recurrent multifocal osteomyelitis of mandible in children.

OBJECTIVE: Chronic recurrent multifocal osteomyelitis (CRMO) is an aseptic inflammatory disorder of unknown etiology. CRMO involving the mandible is a diagnostic challenge due to a propensity for solitary involvement and lack of definitive radiologic or pathologic diagnosis. The purpose of this study is to report clinical and imaging findings in cohort of children with CRMO of the mandible. MATERIALS AND METHODS: A retrospective search of the Picture Archiving Communication System (PACS) and accompanying reports was performed for studies with suspected osteomyelitis of the mandible. The electronic medical record, histopathology results, and imaging findings were also reviewed. Inclusion criteria included presentation and course as well as surgical biopsy consistent with CRMO. Four children satisfied our inclusion criteria. Mean age was 9.1 years (range 3.5-12). M:F ratio=1:3. RESULTS: Patients presented with mild pain and swelling in the parotid region (n=4), mildly elevated sedimentation rate (n=3), and negative biopsy culture (n=4). A positive response to non-steroidal anti-inflammatory medication was noted in all patients. Imaging demonstrated a predominately sclerotic lesion in the posterior mandible associated with solid periosteal reaction in all patients. Cortical expansion (n=3) was commonly present. The clinical course was prolonged in the patients in whom a diagnosis of CRMO was not initially entertained. CONCLUSIONS: Parotid mass or swelling is a common presentation of CRMO involving the mandible. The possibility of this diagnosis should be raised when typical clinical and imaging features are present. Whole body imaging may be helpful to evaluate for additional lesions. While biopsy is necessary with isolated mandibular involvement, repeated biopsies and prolonged antibiotic therapy should be avoided.

End-of-life care issues in advanced dementia.

Appropriate management of advanced dementia requires it to be recognised as a terminal condition that needs palliative care. Interventions during this stage should be carefully chosen to ensure the improvement or maintenance of the quality of life of the person with dementia. Advanced care planning is an important aspect of dementia care. Carers and relatives should be educated and encouraged to actively participate in discussions related to artificial nutrition, cardiopulmonary resuscitation (CPR) and other medical interventions.

Isosorbide dinitrate/hydralazine: its role in the treatment of heart failure.

Despite the advances in pharmacotherapy for heart failure due to reduced left ventricular function, mortality still remains high and many patients are hospitalized over time due to worsening heart failure symptoms. There is some experimental evidence that vasoconstriction and nitric oxide (NO) deficiency in the vasculature play a role in aggravating the symptoms of heart failure, especially in patients of African-American origin. Treatment with high doses of isosorbide dinitrate (ISDN) has been shown to increase symptom-free walking time, but tolerance to the hemodynamic effects of ISDN develops rapidly. Experimental data suggests that hydralazine, given concomitantly, attenuates the development of hemodynamic tolerance to ISDN and may increase bioavailability of NO in the vasculature. In a racially mixed population, treatment with a combination of ISDN and hydralazine reduced mortality compared to placebo to a nearly statistically significant extent in the first Vasodilator Heart Failure Trial (V-HeFT I) but was inferior to treatment with angiotensin-converting enzyme (ACE) inhibitor enalapril in the V-HeFT II study. Subgroup retrospective analysis of published data, however, suggested that ISDN/hydralazine had a substantial effect in black patients and was apparently as effective as treatment with the ACE inhibitor, enalapril, in the same population, but had a much smaller, if any, effect in white patients. A recent placebocontrolled study showed that in self-identified black patients with heart failure, ISDN/hydralazine, given in addition to current state-of-the-art pharmacotherapy for heart failure, reduces mortality and first hospitalizations due to heart failure and improves quality of life. The usefulness of ISDN/hydralazine in ethnic groups other than self-identified blacks is unknown at present and is considered off-label use. This review focuses on ISDN/hydralazine for the management of patients with heart failure due to left ventricular dysfunction and the adverse effects which may be encountered with therapy.