-
Journal of Clinical Medicine Sep 2023Taliglucerase alfa is an enzyme replacement therapy approved for Gaucher disease. We assessed the duration/compliance/safety of such home infusions in commercial use in...
Taliglucerase alfa is an enzyme replacement therapy approved for Gaucher disease. We assessed the duration/compliance/safety of such home infusions in commercial use in four countries where home infusion programs are available. The treatment duration/compliance study included 173 patients (Israel, 58; US, 61; Brazil, 48; Australia, 6) who received ≥1 taliglucerase alfa home infusion through 6/2021. The median age at home therapy initiation was 38 (range, 2-87) years; 58% were females. The median treatment duration (at home) was 2.7 (range, 0.04-9.0) years. The annual compliance rate was stable (≥95%) throughout the study period. A search of the Pfizer global safety database (through 6/2021), identified 19 adverse events (AEs) as related to "definite home use" and 14 to "possible home use" of taliglucerase alfa; 42.4% of these AEs were serious; none were fatal. Twelve serious AEs in five separate case reports were considered treatment related: one case of chest discomfort/pain and hypertension and one case of erythema associated with a toe blister, for which causality could not be excluded; pain in extremity; projectile vomiting and chills, alongside excessive eye blinking; and an infusion-related AE (pruritus). In conclusion, this real-life global study demonstrated that taliglucerase alfa home infusions are safe with high compliance rates.
PubMed: 37762854
DOI: 10.3390/jcm12185913 -
Journal of Medical Case Reports Aug 2023Cryptococcal meningitis (CM) is an inflammatory mycosis of the central nervous system caused by meninge infection or brain parenchyma with Cryptococcus species. It is... (Review)
Review
BACKGROUND
Cryptococcal meningitis (CM) is an inflammatory mycosis of the central nervous system caused by meninge infection or brain parenchyma with Cryptococcus species. It is associated with high morbidity and mortality, and patients with acquired immune deficiency syndrome are particularly susceptible. There have been increasing reports of CM in HIV-negative patients in China over the last few years.
CASE PRESENTATION
A 31-year-old healthy Chinese male presented with fever and gradually developed headache, projectile vomiting, and other manifestations that were later confirmed as Cryptococcus gattii meningoencephalitis. However, multiple disease changes occurred during the course of treatment, and the regimen was accordingly modified after the diagnosis of post-infectious inflammatory response syndrome (PIIRS). The patient eventually recovered.
CONCLUSION
There has been a growing trend in the incidence of C. gattii meningoencephalitis in HIV-negative patients. It shows rapid onset and severe prognosis. This case report can provide a reference to treat PIIRS following CM in HIV-negative patients.
Topics: Humans; Male; Adult; Meningoencephalitis; HIV Infections; Inflammation; Magnetic Resonance Imaging; Cryptococcus gattii; Meningitis, Cryptococcal
PubMed: 37542340
DOI: 10.1186/s13256-023-04066-x -
Cureus Jun 2023We present a 22-day-old male born full term who presented with worsening non-projectile, non-bilious vomiting and failure to thrive (FTT) and was admitted to the...
We present a 22-day-old male born full term who presented with worsening non-projectile, non-bilious vomiting and failure to thrive (FTT) and was admitted to the pediatric intensive care unit (PICU) for severe metabolic acidosis with an elevated anion gap. Despite changing the formula, the patient continued to have spit-ups after feeds since birth. Before this admission, his vomiting worsened with every feed, which was now forceful along with two days of loose stools. Obstructive causes of emesis were ruled out with an upper gastrointestinal series, and a decision was made to evaluate for organic causes of FTT. Transient resolution of symptoms was noticed when the patient was placed NPO (nothing by os/mouth) briefly. His symptoms returned on resuming cow milk-based formula feeds. At this time, a presumptive diagnosis of cow milk protein allergy (CMPA) was made. Positive fecal occult blood supported the diagnosis, and his formula was changed to an extensively hydrolyzed formula (eHF). This is a case of severe CMPA with prolonged vomiting and FTT presenting with severe metabolic acidosis with an elevated anion gap. This case report highlights how CMPA can lead to severe dehydration with metabolic acidosis and increased anion gap.
PubMed: 37503473
DOI: 10.7759/cureus.40973 -
International Journal of Surgery Case... Jul 2023Intestinal obstruction due to external compression is a rare condition, and those caused by appendiceal neoplasms like low-grade appendiceal mucinous neoplasms are...
INTRODUCTION
Intestinal obstruction due to external compression is a rare condition, and those caused by appendiceal neoplasms like low-grade appendiceal mucinous neoplasms are extremely rare.
PRESENTATION OF CASE
A 67-year-old post-menopausal female, with no history of prior abdominal surgery, presented to the emergency room with constipation for 2 days, and peri-umbilical pain and non-projectile bilious vomiting for 19 h. There was mild abdominal distension and diffuse tenderness. After ultrasonography and Computed Tomography (CT) of the abdomen and pelvis, a provisional diagnosis of complete small bowel obstruction secondary to perforated mucinous neoplasm of the appendix was made. An emergency exploratory laparotomy was performed followed by ileo-cecal resection and ileocolic anastomosis. Intraoperative findings revealed bands extending from the appendix to the ileum forming a closed loop with gangrenous spots in the distal ileum and ascitic fluid with mucin. Later, histopathological examination findings were consistent with low-grade appendiceal mucinous neoplasm (LAMN).
DISCUSSION
We reviewed three cases of intestinal obstruction, caused by compression from a LAMN, including the presented case. Preoperative diagnosis of the cause of small intestinal obstruction on CT is sometimes challenging. Hence, in patients with intestinal obstruction with a transition point in the right lower quadrant of the abdomen on CT, a high index of suspicion for an appendiceal etiology is required.
CONCLUSION
LAMN with an associated band should be considered as one of the differential diagnoses in the patient presenting with symptoms of complete small intestinal obstruction without prior abdominal surgery.
PubMed: 37348199
DOI: 10.1016/j.ijscr.2023.108422 -
Cureus May 2023Acute pancreatitis (AP) is a rare event in pregnancy that is characterized by a sudden and severe inflammation of the pancreas. The clinical manifestation of AP during...
Acute pancreatitis (AP) is a rare event in pregnancy that is characterized by a sudden and severe inflammation of the pancreas. The clinical manifestation of AP during pregnancy is highly variable ranging from a mild form to a severe and potentially life-threatening presentation. We share a case of a 29-year-old female (gravida II, para I) who presented in her 33rd gestational week. The patient complained of upper abdominal pain and nausea. Her previous history revealed that she had four episodes of vomiting (food-containing, non-projectile) at home. Her uterine tone was normal, and her cervix was closed. Her white blood cell count was 13,000/mm, and her C-reactive protein (CRP) level was 65 mg/L. She underwent an emergency laparotomy due to suspected acute appendicitis; however, no peritonitis was found intraoperatively. Further blood tests showed high levels of triglyceride at 87.5 mmol/L. The electrophoretic pattern of lipoprotein was consistent with type V hyperlipoproteinemia. An abdominal computed tomography (CT) confirmed the diagnosis of acute pancreatitis. During follow-up after one month, the patient showed triglyceride levels at 4.75 mmol/L and cholesterol at 6.07 mmol/L. Acute pancreatitis due to hypertriglyceridemia is a rare finding; nonetheless, it should be considered as a potential etiology in pregnant patients with nonobstructive abdominal pain.
PubMed: 37313098
DOI: 10.7759/cureus.38913 -
Annals of Medicine and Surgery (2012) May 2023Neonatal liver abscess is a rare condition with a high mortality rate. However, in a low-resource setting, high clinical vigilance and the use of readily accessible...
UNLABELLED
Neonatal liver abscess is a rare condition with a high mortality rate. However, in a low-resource setting, high clinical vigilance and the use of readily accessible diagnostic modalities can help in early diagnosis and, along with appropriate medical management, prevent lethal complication.
CASE PRESENTATION
We present the case of a patient who presented with one day of sudden abdominal distension and two episodes of projectile nonbilious vomiting. A solitary liver abscess was diagnosed using ultrasonography and contrast-enhanced computed tomography findings, and the patient was treated conservatively with parenteral broad-spectrum antibiotics. Following the completion of the antibiotic dose, an ultrasound of the abdomen reveals that the size of the liver abscess has decreased.
CLINICAL DISCUSSION
Neonatal liver abscess is a rare clinical condition that causes significant morbidity and mortality in premature and term babies. In a neonate with potential risk factors, a high index of suspicion is required to make the diagnosis. Baseline tests, as well as computed tomography with or without contrast, aid in the definitive diagnosis of a hepatic abscess. For management, a multidisciplinary approach should be considered, including correction of the predisposing factor as well as appropriate medical and/or surgical intervention.
CONCLUSION
Neonatal liver abscess is frequently overlooked due to its rarity. Thus, whenever a neonate exhibits the aforementioned clinical spectrum, it should be considered in the differential diagnosis, and a diagnostic workup and treatment should be initiated as soon as possible to avoid debilitating complications.
PubMed: 37229078
DOI: 10.1097/MS9.0000000000000468 -
International Journal of Surgery Case... Apr 2023Ascariasis is a helminthic infection of humans caused by Ascaris lumbricoides. Pediatric patients infected with Ascaris can develop multiple complications including...
INTRODUCTION AND IMPORTANCE
Ascariasis is a helminthic infection of humans caused by Ascaris lumbricoides. Pediatric patients infected with Ascaris can develop multiple complications including appendicitis, gastrointestinal bleeding, hepatobiliary disease like cholangitis or obstructive jaundice, intussusception, and bowel obstruction among others. Ascaris is a rare cause of intestinal perforation even in endemic areas.
CASE PRESENTATION
A 2-year-old female Ethiopian toddler who was presented with a complaint of non-bilious, non-projectile vomiting of 06 days duration, about two-three episodes per day. Associated with this she had had progressive abdominal distension, intermittent abdominal cramps and loss of appetite. On examination, she was acutely sick looking. She had signs of dehydration. Subsequently, she was resuscitated, broad spectrum antibiotic started and operated. Finally, the child was discharged improved after 7 days of hospital stay.
CLINICAL DISCUSSION
The clinical presentation of ascariasis can vary from asymptomatic child to one with severe disease requiring surgical intervention like our patient. Severity of disease depends on the worm burden; heavy worm infestation produces a wide range of acute abdominal complications such as intestinal obstruction, intussusception, cholangiohepatitis, pancreatitis, and acute appendicitis. Intestinal ascariasis rarely causes volvulus and intestinal gangrene, perforation and peritonitis.
CONCLUSION
Ascariasis must be considered in the differential diagnosis in patients presented with peritonitis especially those living or from temperate and tropical countries with a history of passage of worms. Ileum perforation is possible in patients with ascariasis due to pressing directly into the bowel wall, inflammatory reaction, or volvulus and intestinal wall necrosis.
PubMed: 37015161
DOI: 10.1016/j.ijscr.2023.108097 -
International Journal of Surgery Case... Apr 2023Intestinal tuberculosis (TB) comprises of about 5 % of all cases of tuberculosis in susceptible communities. Intestinal tuberculosis establishes itself in the lymphoid...
INTRODUCTION AND IMPORTANCE
Intestinal tuberculosis (TB) comprises of about 5 % of all cases of tuberculosis in susceptible communities. Intestinal tuberculosis establishes itself in the lymphoid follicles of the Peyer's patches and spreads to the submucosal and subserosal planes. A gastroduodenal location for TB is very rare even in patients with pulmonary TB and gastroduodenal TB lesions are usually secondary.
CASE PRESENTATION
A 48 year old Ethiopian patient presented with non-bilious, non-projectile vomiting of ingested matter which progressively worsens over time. Associated with this he had burning type of epigastric pain for which he had been treated with antiulcer drugs on multiple occasion, but he had no improvement. The vomiting worsened over the past year and he had unquantified but significant weight loss. Subsequently the patient was diagnosed with duodenal TB and was treated with antituberculous drugs according to the national protocol for six months and the above symptoms subsided. The patient had significant weight gain after starting treatment.
CLINICAL DISCUSSION
The commonest site for gastro-intestinal tuberculosis (TB) is the ileocecal region and duodenal tuberculosis constitutes around 2 % of cases of abdominal tuberculosis. A high index of suspicion for tuberculosis is required in any patient with gastrointestinal symptoms living in endemic areas.
CONCLUSION
We suggest that a diagnosis of duodenal tuberculosis should always be considered in young patients presenting with gastric outlet obstruction (GOO) or unresponsive or relapsing dyspepsia, in areas where tuberculosis is endemic.
PubMed: 37001373
DOI: 10.1016/j.ijscr.2023.108080 -
Cureus Feb 2023Acute appendicitis due to a foreign body is a very rare condition with an incidence of 0.0005% of all appendicitis cases and among all age groups. It is one of the...
Acute appendicitis due to a foreign body is a very rare condition with an incidence of 0.0005% of all appendicitis cases and among all age groups. It is one of the atypical cases of appendicitis, and it is a rare condition commonly asymptomatic; there is a period of time between ingestion of the body and appendicitis. A 14-year-old female patient presented to the emergency room with right lower quadrant colicky pain. Moreover, it was progressive with six hours duration, preceded by loss of appetite. It was associated with nausea, non-projectile vomiting, and diarrhea. By taking the past medical history, the patient had a history of multiple times of foreign ingestions when she was younger. On examination, the patient appeared ill, and was vitally stable. On palpation, the patient had a right lower quadrant tenderness. The patient had positive pointing, rebound, Rovsing, and psoas signs. Full labs were done. Abdominal x-ray revealed a radiopaque metallic body in the right lower quadrant. By ultrasound, there was a minimal free fluid collection in the pelvis. Intraoperatively, the appendix looked hyperemic. Appendectomy was performed, and a needle was extracted from the appendix. Furthermore, the histopathology revealed an early inflamed appendix. Foreign body-causing appendicitis is a rare condition. We need to investigate suspected cases carefully because the presentation is atypical, and sometimes the patients are asymptomatic.
PubMed: 36938180
DOI: 10.7759/cureus.34948