Striking Clinical Findings Research Articles

FGFR signalling in women's cancers

FGFs, in a complex with their receptors (FGFRs) and heparan sulfate (HS), are responsible for a range of cellular functions, from embryogenesis to metabolism. Both germ line and somatic FGFR mutations are known to play a role in a range of diseases, most notably craniosynestosis dysplasias, dwarfism and cancer. Because of the ability of FGFR signalling to induce cell proliferation, migration and survival, FGFRs are readily co-opted by cancer cells. Mutations in, and amplifications of, these receptors are found in a range of cancers with some of the most striking clinical findings relating to their contribution to pathogenesis and progression of female cancers. Here, we outline the molecular mechanisms of FGFR signalling and discuss the role of this pathway in women's cancers, focusing on breast, endometrial, ovarian and cervical carcinomas, and their associated preclinical and clinical data. We also address the rationale for therapeutic intervention and the need for FGFR-targeted therapy to selectively target cancer cells in view of the fundamental roles of FGF signalling in normal physiology.

A 40-Year-Old African American Woman With Sickle Cell Trait, a Renal Cell Mass, and an Ulcerated Scalp Lesion

Patient: 40-year-old African American woman. Chief Complaint: Painless hematuria. History of Present Illness: The patient had 2 episodes of painless gross hematuria before seeking treatment in our emergency department; she reported no other symptoms. Her urinalysis results were positive for hemoglobin and revealed more than 50 red blood cells per high-powered field on microscopic examination. A 3-phase computed tomography (CT) scan revealed an enhancing 3.9 × 2.5 cm lesion in the superior/interpolar region of the right kidney, which suggested renal cell carcinoma or transitional cell carcinoma. A renal biopsy guided by the CT image was not diagnostic. A nephrectomy was performed. Family History: The patient’s maternal grandmother had died of breast cancer. Social History: The patient reports never being a smoker and reports no recreational drug use. Follow-up: Two months after her nephrectomy, a positron emission tomography (PET) scan performed on the patient did not reveal metastatic disease. Two months later, she developed a painful scalp lesion, which slowly grew over the next several months, eventually ulcerated, and did not heal despite appropriate wound care. A biopsy of the lesion had a histologic appearance similar to that of the nephrectomy specimen. Shortly after undergoing skin biopsy, the patient developed new-onset abdominal pain and sought treatment in the emergency department. A computed tomography (CT) scan of her abdomen and pelvis revealed a 1.1 cm pulmonary nodule with mass effect, in a lung base that was suggestive of metastatic disease. A 1.8-cm soft-tissue mass arose at the resection site with a differential diagnosis of recurrent disease or scarring. A positron emission tomography (PET)-CT scan was subsequently performed, which revealed recurrent disease in the right renal fossa and diffuse abdominal and pulmonary metastatic disease. The patient underwent a follow-up skin biopsy. 1. What are this patient’s most striking clinical, laboratory, and radiologic findings? 2. This …

Multiple Positive Sweat Chloride Tests in an Infant Asymptomatic for Cystic Fibrosis

Patient: 1-month-old male. Chief Complaint: Multiple positive sweat chloride tests in the absence of signs or symptoms suggestive of cystic fibrosis (CF). History of Present Illness: The patient was referred for sweat chloride testing after a positive newborn screen for immunoreactive trypsinogen (IRT). Immunoreactive trypsinogen is suggestive of CF when the value is within the top 5% of a period-specific floating cutoff value1 (Figure 1). The patient’s sweat chloride levels were elevated (>60 mmol/L). Preliminary screening for CF transmembrane conductance regulator (CFTR) mutations using a 40 mutation screen identified 1 mutation in intron 11 (1585 -1G>A, legacy name 1717 -1G>A). Subsequent full gene CFTR sequencing revealed a second CFTR mutation in intron 22. Past Medical History: The infant was full term, weighing 8 lbs 6 oz at birth, and experienced an uncomplicated delivery. The infant was discharged following a standard 2-day stay in the newborn nursery. Physical Exam: A temperature of 36.4°C (axillary), blood pressure of 120/80 mm Hg, heart rate of 148, and respirations of 40 per minute were measured for the patient. The patient’s O2 saturation was 100% on room air. The patient’s length was 61.2 cm (90th percentile), weight 6.27 kg (95th percentile), and head circumference was 39.7 cm (50th percentile). His weight-to-length ratio was at the 50th percentile. The patient appeared healthy with no labored respiration and no apparent digestive issues. Drug History: None Family History: No family history of chronic diseases. Principal Laboratory Findings: The patient underwent sweat chloride testing on sweat collected by pilocarpine iontophoresis from both arms (Table 1). These tests were repeated several weeks later yielding similar results (not shown). 1. What are this patient’s most striking laboratory and clinical findings (Table 1)? 2. How do you explain the patient’s most striking clinical and laboratory findings? 3. What conditions are typically associated …

An Uncommon Variant of Acute Myeloid Leukemia: Acute Erythroid Leukemia

Patient: A 65-year-old Asian/Caucasian female. Chief Complaint: The patient complained of general malaise for several weeks duration. She felt generally healthy but thought that she was becoming increasingly short of breath and easily fatigued. History of Present Illness: Diagnostic studies were conducted on this patient on an outpatient basis. She was determined to be markedly anemic with combined leukopenia and thrombocytopenia. There was concern for the possibility of an underlying leukemia or myeloproliferative disorder, so she was admitted to the hospital for a more thorough evaluation and hematologic consultation. Past Medical and Surgical History: The patient has a long history of stable coronary artery disease (CAD). Family History: Unremarkable. Social History: Patient admitted to occasional social alcohol intake, denied tobacco and recreational drug use. Physical Examination Vital signs: temperature, 98.1°F; pulse 93 beats per minute; respiratory rate, 16 breaths per minute; blood pressure, 141/84 mmHg. The patient was a well-nourished Asian/Caucasian woman of normal weight. The patient was not in any acute distress, but she felt generally unwell, which was a condition of longstanding duration. Principal Laboratory Findings: Table 1 Results of Additional Diagnostic Procedures and Tests: Table 2 1. How has the classification of this leukemia been recently revised by the WHO? 2. What are this patient’s most striking clinical and laboratory findings? 3. What additional tests were done to establish a diagnosis? Would additional immunophenotyping be beneficial? 4. Could molecular testing help establish a diagnosis? What aberrant molecular mechanisms might underlie the etiology and pathophysiology of this leukemia? 5. Lenalidomide was chosen to treat this patient. What are some other novel treatments for refractory acute myeloid leukemia (AML)? 1. Acute erythroid leukemia (AEL) is a rare variant of AML affecting primarily older adults (>50 years). After several revisions by the WHO, AML with predominantly erythroid features can be classified either as erythroleukemia or …

Flank Pain and Profound Anemia in an 80-Year-Old Female: Table 1

Patient: 80-year-old Caucasian female Chief Complaint: Fatigue, flank pain, and hematuria History of Present Illness: The patient was admitted to the regional hospital after transfer orders from her primary care physician (PCP) subsequent to results of a CBC and a several week history of fatigue and hematuria. The PCP gave her ciprofloxacin to treat the presumed urinary tract infection (UTI). Upon a 1-month follow-up, the patient’s symptoms had not resolved, and the PCP discontinued the ciprofloxacin and started the patient on cephalexin. The patient again presented to her PCP, prior to this admission, with flank pain, in addition to the previous symptoms. Performance of a CBC revealed a hemoglobin level of 4.6 g/dL, and the patient was subsequently transferred to the hospital for treatment of profound anemia. Past Medical and Surgical History: Hypothyroidism Family History: Multiple myeloma Social History: Tobacco use (quit 15 years ago) Physical Examination Vital Signs: Temperature: 36.2°C; pulse 82 beats per minute; respiratory rate, 20 breaths per minute; blood pressure, 133/65. Principal Laboratory Findings: Table 1 Additional Testing: Reference Lab Pre-transfusion Workup Cell Studies: Direct antiglobulin test (DAT) positive to polyspecific anti-human globulin (AHG), anti-immunoglobulin G (IgG), and anti-complement; elution studies were not performed at the time. Serum/Plasma Studies: Autoantibody Reactivity: positive Adsorption Studies: Alloadsorption performed: no alloantibodies to common antigens detected Recommendations: Group O; Rh (D) compatible; least serologically incompatible; cross-matched red cells. Consideration should be given to the use of a properly monitored blood warmer; keep all fluids warm; keep patient warm. 1. What are the patient’s most striking clinical and laboratory findings? 2. What is the differential diagnosis for a patient with these findings? 3. What is the patient’s most likely diagnosis? 4. What protocol needs to take place to differentiate among the different types of autoimmune hemolytic anemias (AIHA)? 5. What is the recommended treatment and management …

Testicular Mass in a 40-Year-Old Man

Patient: A 40-year-old male with a painless left testicular mass and back pain History of Present Illness: The patient described a 2-month history of progressive scrotal swelling. He also noted lower back pain that worsened with heavy lifting. The patient denied a history of prior scrotal trauma or surgery. He also noted decreased appetite and an unintentional 20-pound weight loss over the past 2 months. Past Medical History: Mild untreated hypertension Past Surgical History: None Family History: Non-contributory Physical Exam Vital Signs: Temperature, 36.9°C; heart rate, 114 beats per minute; respiratory rate, 16 per minute; blood pressure, 142/97 mmHg. Pertinent physical exam findings included tachycardia, hypertension, mild gynecomastia, a palpable mildly tender midline abdominal mass, and a firm enlarged non-tender left testicle measuring ∼10 cm. Laboratory values at presentation are noted in Table 1. 1. What are this patient’s most striking clinical and laboratory findings? 2. What is the differential diagnosis for a testicular mass? 3. What additional testing is necessary for the diagnosis? 4. How are serological tumor markers used in the differential diagnosis? 5. What is the most likely diagnosis based on the clinical, radiologic, laboratory, and histologic findings? 6. What is the pathophysiology of this disease? 7. How is this disease treated and how can laboratory testing be used to assess treatment efficacy? 1. The most striking physical finding in this patient is the large painless testicular mass. The associated lumbar pain and gynecomastia are also significant, as is the unintended weight loss. Laboratory data from this patient are shown in Table 1 and reveal hypercalcemia, low hemoglobin, total iron binding capacity (TIBC), transferrin, and increased ferritin. The patient has increased blood urea nitrogen (BUN) and creatinine values with an associated decrease in the estimated glomerular filtration rate. There are also isolated elevations of amino aspartate transferase (AST) and alkaline phosphatase (ALP), but …

ABO Discrepancy and Hemolytic Anemia Post Liver Transplant due to Passenger Lymphocyte Syndrome

Patient: 54-year-old male Chief Complaint: High fever, diarrhea, and skin rash History of Present Illness: The patient is blood type group AB, Rh(D) positive with nonalcoholic steatohepatitis (NASH). Due to the advanced nature of his disorder, he received a liver transplant; the donor was group B. The patient received 24 units of blood during and after surgery. Fourteen days post transplant he was discharged. Thirty one days post transplant the patient presented with the current symptoms. Hematology workup revealed pancytopenia with a critically low hemoglobin concentration. The blood bank workup revealed an ABO discrepancy and an apparent auto-anti-E antibody. (Table 1) Past Medical History: The patient has a history of diabetes mellitus. The patient had gastric bypass 25 years prior to the transplant, resulting in a weight loss of 115 pounds. One year ago the patient was diagnosed with NASH. 1. What are the patient’s most striking clinical and laboratory findings? 2. What is the nature of the ABO discrepancy? 3. What is the most likely cause of the intravascular hemolysis? 4. Is hemolytic anemia an unexpected complication of transplants? 5. What is the immunological basis for this condition? 6. What is the appropriate blood component therapy for this patient? 1. The most striking clinical findings of the patient were fever, diarrhea, and skin rash. These are indications of graft versus host disease (GVHD), a complication that is rarely seen after orthotopic liver transplantation.1 Acute GVHD occurs between 1 and 8 weeks after the transplant. Symptoms may include fever, diarrhea, and skin rash. Diarrhea is due to lymphocyte infiltration and destruction of the intestinal mucosa, leading to a loss of absorptive function.1 Pancytopenia is associated with GVHD in many cases. The neutropenia and thrombocytopenia may lead to a life-threatening infection.1 A skin biopsy of this patient was consistent with GVHD. The Hemoglobin …

Self-Discovered Breast Mass in a 38-Year-Old Woman

Patient: A 38-year-old Caucasian female Chief Complaint: The patient presented to her primary care physician with a self-discovered breast mass. History of Present Illness: The patient had no significant medical history except 2 pregnancies, the last of which resulted in a full-term pregnancy 6 months prior to her noticing the breast mass. Her primary care physician ordered a pregnancy test while the patient was in the office. The pregnancy test was positive, but a trans-vaginal ultrasound showed no intrauterine pregnancy. She was sent for a breast biopsy, and an abdominal CT was also performed. Past Medical History: G2P2, with no adverse events during either pregnancy. The patient reported missing 1 period after delivery, but it was followed by several normal menstruations before she noted the breast mass. She has not yet reached the age to begin screening for breast cancer (BRCA) and has never had a mammogram. Family History: No family history of malignancy. Social History: The patient is a non-smoker. Physical Exam Findings: On admission, the physical exam showed an adult woman in no acute distress. Her abdomen was soft and non-distended. Laboratory, Radiology, and Pathology Findings: Laboratory values on admission are noted in Table 1. A CT scan of the chest, abdomen, and pelvis was performed. The results are summarized in Image 1. Histologic images of a splenic resection are shown in Image 2. 1. What are this patient’s most striking clinical and laboratory findings (Table 1)? 2. What is the differential diagnosis for a woman of this age with a breast mass? 3. What additional testing is necessary for the diagnosis? 4. What is the most likely diagnosis based on the clinical, radiologic, laboratory, and histologic findings? 5. What is the pathophysiology of this disease, and is this a common presentation? 6. How can you explain the patient’s thyroid …

Episodic Fever and Neutropenia in a 22-Year-Old Male

Patient: 22-year-old African-American male Chief Complaint: Episodic fevers History of Present Illness: The patient has experienced episodic fevers regularly for the past 6 months. Initially, the fevers occurred 4–6 weeks apart but have been increasing in frequency in the past 2 months. Each episode reportedly lasts about 3 days, with the fever peaking around 103°F. The fever is accompanied by muscle pain and occasionally sore throat, chills, and night sweats. There is no associated nausea, vomiting, or lymphadenopathy. During the previous 3 weeks, the patient reported a decreased appetite and an unintended weight loss of 10–20 pounds. The fevers typically resolved with acetaminophen, and the patient recently completed several courses of amoxicillin. Past Medical History: The patient was hospitalized approximately 3 weeks prior to this presentation for similar symptoms. At that time, he was noted to have a significantly reduced absolute neutrophil count, which recovered with supportive care. Since his discharge, he has had weekly complete blood counts, all of which have been normal. Social History: The patient is a smoker and drinks rarely. He denies substance abuse issues or recreational drug use. Family History: Non-contributory. Vital Signs: Temperature, 99°F; heart rate, 82 beats per minute; respiratory rate, 16 per minute; blood pressure, 160/80 mmHg. Skin: No rash. Lymph Nodes: No significant submandibular, cervical, or supraclavicular lymphadenopathy. Pulmonary: Clear to auscultation. Principal Laboratory Findings: See Table 1 and Image 1. 1. What are this patient’s most striking clinical and laboratory findings? 2. What are the possible causes/conditions that could explain the clinical and laboratory findings? 3. What additional studies would be appropriate to define the cause of this patient’s clinical and laboratory findings? 4. What is this patient’s most likely diagnosis? 5. What is the molecular pathogenesis of this patient’s disease? 6. How is this patient’s condition typically treated? 1. The most striking findings are …

Unexpected Cause of Anemia in a 45-Year-Old Patient With Acute Lymphoblastic Leukemia

Patient: A 45-year-old Caucasian female Chief Complaint: The patient reports feeling light-headed, fatigued, and short of breath with exertion. History of Present Illness: The patient was recently diagnosed with precursor B-cell acute lymphoblastic leukemia (ALL) and is now 4 weeks status post induction chemotherapy. Her original therapeutic course included prednisone, asparaginase, vincristine, and daunorubicin. She returned for a bone marrow evaluation prior to consolidation therapy. Prior to discharge the patient was prescribed Dapsone for Pneumocystis carinii pneumonia (PCP) prophylaxis, as previously documented intolerance prevented trimethoprim-sulfamethoxazole therapy. Her glucose-6-phosphate dehydrogenase (G6PD) level prior to chemotherapy initiation was normal. Several days prior to this scheduled visit, the patient felt light-headed, fatigued, and noted progressive shortness of breath with exertion. Subsequently, a complete blood count at her primary physician’s office showed a hemoglobin (HGB) of 8.5g/dL (normal: 12–16g/dL), and she was transfused 2 units of compatible RBCs. She denies fevers, chills, and night sweats. Past Medical History: As above, otherwise not contributory. Family History: Not contributory. Vital signs: Temperature 37.7°C; blood pressure 103/68 mm Hg; heart rate 106 bpm. The patient did not have scleral icterus or other evidence of jaundice. No rashes, ecchymosis, or petechiae were identified. The patient did not have cervical, supraclavicular, or axillary lymphadenopathy. Her abdomen was soft, non-tender, non-distended, with no evidence of hepatosplenomegaly or palpable masses. Additional Laboratory Tests: Peripheral blood smear (Image 1). Principle Laboratory Findings : Table 1. 1. What are the patient’s most striking clinical and laboratory findings? 2. What are the most likely causes of this patient’s laboratory findings and underlying pathophysiology of this patient’s condition? 3. What additional diagnostic procedure may help clarify these findings? 4. What is the patient’s most likely diagnosis? 5. How should this patient be treated? 1. Clinically, the most striking finding in this patient with a recent diagnosis of precursor …

Circulating Blasts in a Crohn’s Patient Treated With Natalizumab

### Patient: 34-year-old Caucasian male. ### Chief Complaint: Pathologist’s review of peripheral smear is requested secondary to presence of circulating blasts. ### History of Present Illness: The patient has a 7-year history of Crohn’s disease. He has been treated with Natalizumab (Tysabri) since April 2008, after infliximab and high-dose steroids failed to control his symptoms. He stated he has an average of 5–7 bowel movements daily. He denies changes in the number of bowel movements, hematochezia, abdominal pain, fatigue, night sweats, fever/chills, weight loss, or neurologic symptoms, including visual changes, changes in thought process, or headaches. He also denies recent travel or recent illness. ### Past Medical History: Crohn’s disease diagnosed in 2003, status post partial small bowel resection and multiple stricturoplasties. Well documented iron deficiency anemia. ### Medications: Natalizumab; 300 mg IV every 4 weeks and iron infusions; monthly. ### Family History: Non-contributory. ### Physical Exam: Vital signs: blood pressure, 143/92 mmHg; temperature, 36.1°C; pulse, 81 bpm; respirations, 14. HEENT: Conjunctivae are clear. Sclerae are anicteric. Oropharynx is clear. There is no lymphadenopathy. Abdomen: Active bowel sounds, soft and nontender, no hepatosplenomegaly or masses. ### Principal Laboratory Finding: The laboratory findings at presentation are listed in Table 1. ### Hematopathology Review of Peripheral Blood Smear: Occasional blasts (Image 1) and rare myelocytes present. Adequate platelets; erythrocytes with mild microcytosis, moderate anisocytosis, and polychromasia. 1. What are this patient’s most striking clinical and laboratory findings? 2. What is the differential diagnosis of these findings? 3. What is Natalizumab and what is its therapeutic effect? 4. How does Natalizumab contribute to this patient’s peripheral blood findings? 5. What are Natalizumab’s additional risks? 6. What are Natalizumab’s possible additional applications? 1. The most striking finding in this patient is the presence of circulating immature hematopoietic cells (blasts) in his peripheral smear. The hematology analyzer used in our institution defines the leukocyte differential by flow cytometric principles and staining with myeloperoxidase. In addition to the white cell fractions, the instrument also reports a large unstained cell (LUC) value, relating to populations …

Urine Crystals in a 1-Year-Old Male

### Patient: A 1-year-old Latino male. ### Chief Complaint: Vomiting and fever of 39.8°C for 24 hours, pain with urination. ### History of Present Illness: The patient presented to the emergency department with his mother, who reported that he had a fever along with vomiting and trouble urinating for the past 24 hours. The mother denied that the patient had shown signs of ear pain, eye irritation, nasal discharge, congestion, or sore throat. She also did not report a cough, difficulty breathing, diarrhea, bloody stools, skin rash, or decreased urine output. The patient has had no known contact with any sick individuals. At presentation, the patient is not on any medications and has no known drug allergies. ### Past Medical History: Product of term vaginal delivery. No birth complications. Immunization status is up-to-date. ### Social History: The patient and his mother moved to North Carolina from Mississippi in 2008 and do not have a primary pediatrician. His mother is his primary care giver, and he attends daycare. ### Family History: No known family history of kidney stones, abnormal endocrine disorders, or hypercalcemia. ### Principal Laboratory Findings: Table 1 ### Vital Signs: Heart rate, 118 bpm; respiratory rate, 22 per minute. ### General: Active, alert, in no acute distress. ### Height: 50th percentile. ### Weight: 70th percentile. ### Eyes: No lid lag, proptosis, periorbital swelling, or photophobia. ### Neck: Supple, no masses. ### Lungs: No respiratory distress; clear to auscultation bilaterally. ### Heart: Regular rate and rhythm without murmurs. ### Extremities: Unremarkable. ### Skin: No rash, warm, dry. ### Additional Testing: A urine organic acid profile showed increased lactic, 3-OH butyric, acetoacetic, ethylmalonic, and dicarboxylic acids. The patient was discharged prior to additional urine testing. 1. What are the patient’s most striking clinical and laboratory findings? 2. What is the differential diagnosis for a patient with these findings? 3. What is this patient’s most likely diagnosis? 4. What is the molecular pathogenesis of this disease? 5. How is this condition typically managed? 1. The most striking clinical findings included fever (>39°C), vomiting, and painful urination. The most striking laboratory findings included the presence of …

Pancytopenia and Acute Febrile Illness in a Female

Patient: 52-year-old female. Chief Complaint: Fever with chills and rigor for 1 week. History of Present Illness: She was started on antimalarial treatment. She responded well and was afebrile 48 hours after initiation of therapy. She was also on regular medication for diabetes mellitus and hypothyroidism for the past 10 years. Past Medical History: Patient was admitted to the hospital with Falciparum malaria 1 month earlier and was treated for the same. She was afebrile for 3 weeks following discharge. Family History: Unremarkable. Medications: Unremarkable. Physical Examination: Mild pallor; temperature, 103°F; pulse, 100; blood pressure, 130/90; mild hepatosplenomegaly. Principal Laboratory Findings: Table 1 and Image 1 . 1. What are the most striking clinical and laboratory findings in this patient? 2. How do you explain these findings? 3. What is/are the causative agent(s) creating this patient’s condition? 4. What is the geographical distribution of the organism causing this illness? 5. What are the modalities used to diagnose this condition? 6. What is the explanation for the low peripheral yield of the organism causing this condition? 7. Which organisms, other than the 1 causing fever in this patient, can be seen in the blood/bone marrow? 1. Fever with anemia and leukopenia, rare gametocytes (1 in 100 oil immersion fields) of Plasmodium falciparum in the peripheral blood smear (detected after the peripheral blood smear was reviewed in the …

Lethargy and Seizures in a 52-Year-Old Male

Patient: 52-year-old Caucasian male. Chief Complaint: Increasing fatigue and weakness. History of Present Illness: Our patient presented for evaluation of an acute worsening of progressive weakness over the past month. He felt so weak that he almost “passed out.” He also reported an increased fluid intake and an increase in urinary output. There was no pain on urination or history of urinary tract infection. He denied chest pain, vision problems, nausea, diarrhea, and syncope. Family members were concerned that the patient was “wobbly” when he walked. While waiting in the emergency room, the patient experienced 2 tonic-clonic seizures. Past Medical History: Nephrolithiasis, hypertension, benign prostatic hypertrophy. Medication History: Lisinopril, potassium, Allopurinol, Flexeril. Social History: Denies alcohol and tobacco use. Physical Exam Findings: Blood pressure, 71/36 mm Hg; pulse, 115; respiratory rate, 22; and temperature, 36.9°C. The patient was awake and responsive but not oriented. The skin was dry and turgor was poor. The oral mucosa was also dry. The abdominal exam revealed mid-epigastric tenderness. Neurologic exam was nonfocal. Lung and cardiac exams were normal. Principal Laboratory Findings: Tables 1, 2, 3, 4 , and 5 . 1. What are this patient’s most striking clinical and laboratory test findings? 2. How do you explain these findings? 3. What is your differential diagnosis? 4. What additional laboratory test would be useful in confirming the diagnosis of this patient’s condition? 5. What laboratory tests might explain the precipitating event which caused this patient’s condition? 6. What is the most likely diagnosis? 7. What is the treatment and management of this disorder? 1. This patient has several important critical signs and symptoms that include seizure, lethargy, polydipsia, polyuria, hypotension, epigastric pain, and tachycardia. The …

Hepatorenal Syndrome in a 52-Year-Old Caucasian Male

Patient: 52-year-old Caucasian male. Chief Complaint: Swollen legs and abdominal distension. History of Present Illness: The patient has a past medical history that is significant for end-stage liver cirrhosis and blindness. Since 1967, he has had a history of heavy alcohol consumption; however, he quit 12 months prior. The patient had a PT of 27 seconds (INR=2.5) and liver disease associated with alcoholic liver cirrhosis. He was admitted for increased lower extremity edema due to noncompliance with medications. He had also been recently admitted for altered mental status and had been treated for hepatic encephalopathy. Past Medical History: Alcoholic cirrhosis, retinitis pigmentosa, panic disorder, and hepatorenal syndrome. He was admitted with lower-extremity edema and abdominal swelling. Family/Social History: He has a family history of blindness-retinosus pigmentosus (genetic brother), chronic obstructive pulmonary disease (COPD) (father), and hypertension (mother). Medications: Klonopin, Levaquin, Cephulac, Protonix, Deltasone, Inderal, Atarax, Lasix, and Spironolactone. Physical Examination: Temperature, 36°C; blood pressure, 118/68; pulse, 110; and weight, 74.8 Kg. He was alert and oriented and in no apparent distress. His pupils were equal and round. His oropharynx was clear with moist mucous membranes. The abdomen was firm and distended with normoactive bowel sounds. He had edema to the thigh with open ulceration on his feet with clear margins/base. Principal Laboratory Findings: Tables 1 , 2 , and 3 . 1. What are this patient’s most striking clinical and laboratory findings? 2. How do you explain these findings? 3. What is this patient’s most likely diagnosis? 4. What is the etiology of this patient’s condition? 5. What is the standard therapy for this patient’s disorder? 6. What is the diagnostic approach of hepatorenal syndrome seen in our patient? 7. What are the complications and prognosis for this disease? 1. Our patient presented with lower-extremity edema and abdominal swelling associated with a past medical history significant for …

Double Trisomy 48,XXY,+21 in a Child With Phenotypic Features of Down Syndrome

Patient One-month-old male infant History of Present Illness The infant presented with dysmorphic features suggestive of Down syndrome and was referred for chromosomal analysis. Family History Patient was the fourth child of a consanguineous marriage and a product of normal gestation (39 weeks) and delivery. The mother’s and father’s ages were 43 and 45, respectively. The couple has 3 healthy sons. Physical Examination The proband delivered with body weight of 2.83 kg and length of 48 cm. He showed widely open fontanelle, microcephaly, flat occiput, slanting palpebral fissures, low set and malformed ears, protruding tongue, open mouth, hypotonia, short broad hand, clinodactyly, gap between first and second toes, and plantar furrow—all typical features of Down syndrome. The child was born also with cryptorchidism but normal penis size. Laboratory Findings Chromosomal analysis of proband revealed 48,XXY,+21 by karotyping and FISH technique ( Figures 1 and 2 ) with no evidence of mosaicism. Parental karyotypes were normal. 1. What are this patient’s most striking clinical and laboratory findings? 2. What is the frequency of double aneuploidy according to the literature? 3. What is the etiology and molecular basis of this patient’s syndrome? 4. What are the benefits in presenting such a case study? 1. A 1-month-old male infant with dysmorphic features suggestive of Down syndrome was referred for chromosomal analysis. This case …

Neutrophil Aggregates in a Young Female With Sepsis

Patient 27-year-old woman. Chief Complaint High-grade fever and generalized rash for 2 days. Physical Exam Findings The patient was febrile and tachypneic with a generalized macular rash. Her pulse was 132/minute and she had a blood pressure of 90/70 mmHg. There was no organomegaly. She was clinically diagnosed to have sepsis due to toxic shock syndrome. Drug History On sodium valproate 500 mg twice a day. Medical History She has epilepsy and is currently on treatment. She had delivered a baby by Caesarian section 4 days earlier. Family History Unremarkable. Principal Laboratory Findings Table 1, Image 1 , and Image 2 . 1. What are this patient’s most striking clinical and laboratory findings? 2. How do you explain these findings? 3. What other clinical conditions have been associated …

Spurious Thrombocytopenia in a Young Male

1. What is (are) this patient’s most striking clinical and laboratory findings? 2. How do you explain these findings? 3. What is this patient’s most likely diagnosis? 4. How is this condition confirmed? 5. Why is the automated platelet count erroneous in this condition? 6. What are the causes of a spuriously low automated platelet count? 7. What are the clinical implications of detecting this patient’s condition on a peripheral blood smear? 8. In which disease states can the condition seen in this patient’s blood smear be observed?

Travel-Related Fever Due to an Emerging Infection

1. What are this patient’s most striking clinical and laboratory findings? 2. What should be considered when evaluating a patient with travel-related fever? 3. How do you explain this patient’s most striking clinical and laboratory findings? 4. What additional laboratory tests should be ordered and why? 5. What is the patient’s most likely diagnosis? 6. Omitting dengue fever, what is the epidemiology, clinical presentation, and pathogenesis of the other condition that may have caused this patient’s travel-related illness? 7. What is an appropriate treatment and outcome for this patient? 8. Why should the United States be concerned about this relatively new pathogen?

Fever and Confusion in a 47-Year-Old Man

1. What are this patient’s most striking clinical and laboratory findings? 2. How do you explain this patient’s most striking clinical and laboratory findings? 3. What is this patient’s most likely diagnosis? 4. What is the most common parasite for this infection? 5. What are some complications of this patient’s disease? 6. Would this patient be denied as a blood donor? 7. What drugs could be used for prevention and treatment of this patient’s disease?