New Phenotypic Feature in a Patient With a Rare Triplication of the 22q11.2 Region Presenting With Peters Anomaly, Congenital Heart Disease, and Global Developmental Delay: A Case Report and Literature Review.

The vulnerability of chromosome 22q11.2 region to rearrangement is due to several low copy repeat (LCR) sequences. These rearrangements are involved in syndromes that share similar phenotypic features. The rearrangements of the 22q11.2 chromosomal region are common, specifically, duplications and deletions associated with congenital anomalies and developmental disabilities disorders. However, the features associated with this chromosomal rearrangement remain largely unknown. We present, to the best of our knowledge, the third patient affected by triplication of the 22q11.2 chromosome region, who presents with Peters anomaly, global developmental delay, patent ductus arteriosus, and subaortic stenosis. This case highlights a new phenotypic feature associated with triplication of this genomic region.

Primary Psoas Abscess in a Pediatric Patient: A Case Report.

A psoas abscess is described as a collection of pus in the iliopsoas muscle compartment, which comprises the psoas and iliacus muscles located in the extraperitoneal space. It can be considered a primary abscess due to hematogenous or lymphatic seeding from a distant site, primarily occurring in children in tropical or developing countries. These primary infections are typically due to a single microorganism, most commonly, Staphylococcus aureus. Secondary spread develops due to the direct spread of infection of the psoas muscle from an adjacent structure (hip, vertebrae, gastrointestinal tract, aorta, genitourinary tract), developing due to trauma or instrumentation of the inguinal region, lumbar spine, or hip region. The secondary infections can be either mono- or polymicrobial and include enteric and anaerobic organisms. We present a case of psoas abscess in a five-year-old female who presented with a progressively worsening pain in the right hip for three days with refusal to bear weight and no history of trauma. Hip x-ray imaging yielded no abnormal results, but laboratory values prompted further investigation, leading to identifying a right psoas abscess via MRI with surrounding edema and enhancement. Imaging modality choice has proven to be instrumental in identifying psoas abscess and is key to achieving a diagnosis.

Methadone Toxicity in a Pediatric Patient: A Case Report.

Pediatric morbidity and mortality associated with methadone poisoning have been rising over the years. In this report, we discuss a case of a four-year-old boy who presented with respiratory distress and a depressed level of consciousness. A urine drug testing was performed given the miosis along with the depressed level of consciousness; the test was found to be positive for methadone, and no other cause of drowsiness was identified. This report highlights the importance of urine drug testing in pediatric patients presenting with a depressed level of consciousness.

Pancreatitis and Acute Liver Failure From Coricidin® HBP Intoxication.

The use of over-the-counter medications as recreational drugs of abuse in adolescents is increasing. We present the case of a patient who presented with abdominal pain after the ingestion of Coricidin®, an over-the-counter cold medication that contains acetaminophen, chlorpheniramine maleate, and dextromethorphan hydrobromide. The case was complicated by acute liver failure and concomitant pancreatitis that, in a few reported cases, has been associated with high doses of acetaminophen.

Critical Event Debriefing in a Community Hospital.

Introduction Medical error is currently the third major cause of death in the United States after cardiac disease and cancer. A significant number of root cause analyses performed revealed that medical errors are mostly attributed to human errors and communication gaps. Debriefing has been identified as a major tool used in identifying medical errors, improving communication, reviewing team performance, and providing emotional support following a critical event. Despite being aware of the importance of debriefing, most healthcare providers fail to make use of this tool on a regular basis, and very few studies have been conducted in regard to the practice of debriefing. This study ascertains the frequency, current practice, and limitations of debriefing following critical events in a community hospital. Design/Methods This was a cross-sectional observational study conducted among attending physicians, physician assistants, residents, and nurses who work in high acuity areas located in the study location. Data on current debriefing practices were obtained and analyzed using descriptive statistics. Results A total of 130 respondents participated in this study. Following a critical event in their department, 65 (50%) respondents reported little (<25% of the time) or no practice of debriefing and only 20 (15.4%) respondents reported frequent practice (>75% of the time). Debriefing was done more than once a week as reported by 35 (26.9%) of the respondents and was led by attending physicians 77 (59.2%). The debrief session sometimes occurred immediately following a critical event (46.9%). Although 118 (90%) of the respondents feel that there is a need to receive some training on debriefing, only 51 (39%) of the respondents have received some form of formal training on the practice of debriefing. Among the healthcare providers who had some form of debriefing in their practice, the few debrief sessions held were to discuss medical management, identify problems with systems/processes, and provide emotional support. Increased workload was identified by 92 (70.8%) respondents as the major limitations to the practice of debriefing. Most respondents support that debriefing should be done immediately after a critical event such as death of a patient (123 [94.6%]), trauma resuscitation (108 [83.1%]), cardiopulmonary arrest (122 [93.8%]), and multiple casualty/disasters (95 [73.1%]). Conclusions In order to reduce medical errors, hospitals and its management team must create an environment that will encourage all patient care workers to have a debriefing session following every critical event. This can be achieved by organizing formal training, creating a template/format for debriefing, and encouraging all hospital units to make this an integral part of their work process.

Isolated Chromosome 6q27 Terminal Deletion Syndrome.

Any change in either the short (p) or long (q) arm of chromosome six can result in a variety of disorders.  A two-year-old female child came to us with a history of sudden onset generalized tonic-clonic seizure. She had a syndromic face with frontal bossing and palpable thinning of the right lower lip and an apparent facial asymmetry while crying due to the hypoplasia of the right depressor angularis oris. Her joints were hypermobile and hypotonic. Chromosomal karyotyping exhibited a normal female karyotype, but pathogenic microarray genetic evaluation showed a loss of approximately 783 kb of the 6q27 terminus. She was diagnosed with chromosome 6q27 terminal deletion and managed with anti-seizure medications.  Chromosome 6q27 terminal deletion can present with an array of structural and developmental anomalies. It is, therefore, necessary to understand the typical phenotypic and distinctive clinical features of congenital chromosome 6q27 terminal deletion syndrome for early diagnosis and intervention.

Can urinary nitrites or other urinalysis findings be a predictor of bacterial resistance of uncomplicated urinary tract infections?

BACKGROUND AND OBJECTIVES: To evaluate whether initial urinalysis (UA) and urinary nitrite results can be used as a proxy for choosing empiric antibiotic therapy. MATERIALS AND METHODS: A retrospective study was conducted in an urban inner city community hospital in New York City (NYU Woodhull Medical Center). We reviewed the charts of patients seen in the Emergency Department and Pediatric Clinic who had a diagnosis of urinary tract infection (UTI) during a 3 year time period (January 2010-December 2012). Statistical analysis was performed using SPSS 20.0 statistical software. RESULTS: Between January 2010 and December 2012, a total of 378 patients had a diagnosis of UTI. Seventy-five (19.8%) were males and 203 (80.2%) were females. Of the 378 patients with a diagnosis of UTI, the most common isolated pathogen was Escherichia coli, which was detected in 283 (74.9%) isolates. Other bacteria included Klebsiella spp 30 (7.9%), Proteus 21 (5.6%), Enterococcus 14 (3.7%), and others 30 (7.9%). The resistance rate was higher in the nitrite positive group for the following antibiotics: TMP/SMX and ampicillin with or without sulbactam. No significant correlation was found with the remaining studied antibiotics. No significant correlation was found between leukoesterase and the resistance patterns in all of the studied antibiotics, except cefazolin. CONCLUSION: Urinary nitrite results are not helpful in choosing an initial antibiotic to treat a UTI. Leukocytosis in the blood or urine or the presence of a fever cannot be used to predict bacterial resistance. The use of nitrofurantoin or cephalexin for the treatment of cystitis was optimum, and in the presence of negative leukoesterase, nitrofurantoin was preferable to cephalexin.

Delayed subaponeurotic (subgaleal) fluid collection.

A 14-week-old boy who is known to have a single right kidney presented to our emergency department with history of fever for 1 day. A sepsis work up was performed (complete blood count, blood culture, urine culture and lumbar puncture) in the emergency room. On the second day of admission he developed swelling in the parieto-occipital area. Head CT showed crescent-shaped extra cranial area of homogeneous low attenuation. He remained asymptomatic with a stable haemoglobin and haematocrit. Swelling subsequently resolved within 5 weeks.

Lancing of a boil leading to severe invasive methicillin-sensitive Staphylococcus aureus infection in an adolescent.

A 10-year-old boy presented to the emergency department with chief symptoms of fever and right leg pain for 3 days. Also of note, he reported that he had a boil on his neck 2 weeks prior to admission. This lesion was lanced by his mother with a hot needle. An X-ray, CT scan and MRI of the right knee showed no evidence of osteomyelitis. He was placed on intravenous vancomycin for empiric treatment. Blood culture grew methicillin-susceptible Staphylococcus aureus (MSSA), susceptible to vancomycin and clindamycin. He continued to spike fever with the development of erythema, and swelling of the distal thigh. Repeat MRI of the right knee showed osteomyelitis and subperiosteal abscess in the distal femur shaft with surrounding intramuscular abscesses and pyomyositis. He was taken to the operating room where 50 mL of fluid was drained from the periosteal abscess and a bone biopsy was obtained. Bone marrow culture also grew MSSA, susceptible to clindamycin.

Febrile seizures: current role of the laboratory investigation and source of the fever in the diagnostic approach.

OBJECTIVES: The aim of this study was to analyze the value of performing laboratory tests, taking cultures, and imaging, a diagnostic approach for febrile seizures (FSs) still routinely performed despite the American Academy of Pediatrics recommendations not to. Another aim of this study was to identify the most common sources of fever in patients with FSs and to determine whether the occurrence of FSs correlates with the seasons of the year. METHODS: This is a retrospective study that included all patients diagnosed with simple or complex FSs who were seen in the emergency room or inpatient unit from January 2004 to December 2009. RESULTS: Of the 219 patients included in the study, 135 (61.4%) cases had the etiology of the FS diagnosed. Upper respiratory tract infection, otitis media, urinary infection, and pneumonia were the most common diagnoses attributed to the fever. Leukocytosis was present in 48 (24%) of 219, and neutrophilia in 199 (91%) of 219 cases. Low bicarbonate levels were common among every age group. Only 1 blood culture was positive for Salmonella. The incidence of FS was higher during the winter (49.3% of the cases), and it closely paralleled the seasonal variation of viral infections. CONCLUSIONS: Even though laboratory tests, taking cultures, and imaging are performed in daily practice when approaching FSs, the association of FSs with serious infectious disease is rare and usually overestimated. The diagnostic approach should be individualized to each case and correlated with available data like that shown in this study. Parents should be educated with the knowledge that the occurrence of FSs tends to be higher in winter.